SNP Links for Protein (Select 194097489) - SNP

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 19:5928087 (GRCh38)
19:5928098 (GRCh37)
Canonical SPDI:: NC_000019.10:5928084:CTCCT:CT
Gene:: RANBP3 (Varview)
Functional Consequence:: splice_acceptor_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5928087_5928089del, NC_000019.9:g.5928098_5928100del

Select item 146105890618.

rs1461058906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5925702 (GRCh38)
19:5925713 (GRCh37)
Canonical SPDI:: NC_000019.10:5925701:C:T
Gene:: RANBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5925702C>T, NC_000019.9:g.5925713C>T, NM_007322.3:c.849G>A, NM_007322.2:c.849G>A, NM_003624.3:c.834G>A, NM_003624.2:c.834G>A, NM_007320.3:c.645G>A, NM_007320.2:c.645G>A, XM_011528393.2:c.6G>A, XM_011528393.1:c.6G>A, NM_001300865.2:c.630G>A, NM_001300865.1:c.630G>A, XM_011528394.2:c.6G>A, XM_011528394.1:c.6G>A, XM_047439573.1:c.6G>A, XM_047439572.1:c.6G>A, XM_047439574.1:c.6G>A, XM_047439575.1:c.6G>A, XM_047439576.1:c.6G>A, XM_047439571.1:c.6G>A, XM_047439577.1:c.6G>A, XM_047439569.1:c.465G>A, XM_047439570.1:c.450G>A, NM_007321.1:c.6G>A

Select item 145470806119.

rs1454708061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:5925707 (GRCh38)
19:5925718 (GRCh37)
Canonical SPDI:: NC_000019.10:5925706:T:G
Gene:: RANBP3 (Varview)
Functional Consequence:: initiator_codon_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.5925707T>G, NC_000019.9:g.5925718T>G, NM_007322.3:c.844A>C, NM_007322.2:c.844A>C, NM_003624.3:c.829A>C, NM_003624.2:c.829A>C, NM_007320.3:c.640A>C, NM_007320.2:c.640A>C, XM_011528393.2:c.1A>C, XM_011528393.1:c.1A>C, NM_001300865.2:c.625A>C, NM_001300865.1:c.625A>C, XM_011528394.2:c.1A>C, XM_011528394.1:c.1A>C, XM_047439573.1:c.1A>C, XM_047439572.1:c.1A>C, XM_047439574.1:c.1A>C, XM_047439575.1:c.1A>C, XM_047439576.1:c.1A>C, XM_047439571.1:c.1A>C, XM_047439577.1:c.1A>C, XM_047439569.1:c.460A>C, XM_047439570.1:c.445A>C, NM_007321.1:c.1A>C, NP_015561.1:p.Met282Leu, NP_003615.2:p.Met277Leu, NP_015559.2:p.Met214Leu, XP_011526695.1:p.Met1Leu, NP_001287794.1:p.Met209Leu, XP_011526696.1:p.Met1Leu, XP_047295529.1:p.Met1Leu, XP_047295528.1:p.Met1Leu, XP_047295530.1:p.Met1Leu, XP_047295531.1:p.Met1Leu, XP_047295532.1:p.Met1Leu, XP_047295527.1:p.Met1Leu, XP_047295533.1:p.Met1Leu, XP_047295525.1:p.Met154Leu, XP_047295526.1:p.Met149Leu

Select item 145423278320.

rs1454232783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5921313 (GRCh38)
19:5921324 (GRCh37)
Canonical SPDI:: NC_000019.10:5921312:G:A
Gene:: RANBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5921313G>A, NC_000019.9:g.5921324G>A, NM_007322.3:c.1218C>T, NM_007322.2:c.1218C>T, NM_003624.3:c.1203C>T, NM_003624.2:c.1203C>T, NM_007320.3:c.1014C>T, NM_007320.2:c.1014C>T, XM_011528393.2:c.375C>T, XM_011528393.1:c.375C>T, NM_001300865.2:c.999C>T, NM_001300865.1:c.999C>T, XM_011528394.2:c.375C>T, XM_011528394.1:c.375C>T, XM_047439573.1:c.375C>T, XM_047439572.1:c.375C>T, XM_047439574.1:c.375C>T, XM_047439575.1:c.375C>T, XM_047439576.1:c.375C>T, XM_047439571.1:c.375C>T, XM_047439577.1:c.375C>T, XM_047439569.1:c.834C>T, XM_047439570.1:c.819C>T, NM_007321.1:c.*436C>T

dbSNP