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1.

rs1062049 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    3:187286000 (GRCh38)
    3:187003788 (GRCh37)
    Canonical SPDI:
    NC_000003.12:187285999:G:A,NC_000003.12:187285999:G:T
    Gene:
    MASP1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000008/1 (ExAC)
    T=0.000008/2 (TOPMED)
    T=0.000012/3 (GnomAD_exomes)
    T=0.000014/2 (GnomAD)
    A=0.00495/1 (HapMap)
    HGVS:
    NC_000003.12:g.187286000G>A, NC_000003.12:g.187286000G>T, NC_000003.11:g.187003788G>A, NC_000003.11:g.187003788G>T, NG_051120.2:g.261G>A, NG_051120.2:g.261G>T, NW_025791769.1:g.95679G>A, NW_025791769.1:g.95679G>T, NG_029440.1:g.11023C>T, NG_029440.1:g.11023C>A, NM_001879.6:c.62C>T, NM_001879.6:c.62C>A, NM_001879.5:c.62C>T, NM_001879.5:c.62C>A, NM_139125.4:c.62C>T, NM_139125.4:c.62C>A, NM_139125.3:c.62C>T, NM_139125.3:c.62C>A, NM_001031849.3:c.62C>T, NM_001031849.3:c.62C>A, NM_001031849.2:c.62C>T, NM_001031849.2:c.62C>A, XM_011512990.3:c.83C>T, XM_011512990.3:c.83C>A, XM_011512990.2:c.83C>T, XM_011512990.2:c.83C>A, XM_011512990.1:c.83C>T, XM_011512990.1:c.83C>A, XM_011512989.3:c.83C>T, XM_011512989.3:c.83C>A, XM_011512989.2:c.83C>T, XM_011512989.2:c.83C>A, XM_011512989.1:c.83C>T, XM_011512989.1:c.83C>A, XM_011512991.3:c.83C>T, XM_011512991.3:c.83C>A, XM_011512991.2:c.83C>T, XM_011512991.2:c.83C>A, XM_011512991.1:c.83C>T, XM_011512991.1:c.83C>A, XM_017006871.2:c.83C>T, XM_017006871.2:c.83C>A, XM_017006871.1:c.83C>T, XM_017006871.1:c.83C>A, XM_017006869.2:c.-17C>T, XM_017006869.2:c.-17C>A, XM_017006869.1:c.-17C>T, XM_017006869.1:c.-17C>A, XM_047448584.1:c.62C>T, XM_047448584.1:c.62C>A, NP_001870.3:p.Thr21Ile, NP_001870.3:p.Thr21Asn, NP_624302.1:p.Thr21Ile, NP_624302.1:p.Thr21Asn, NP_001027019.1:p.Thr21Ile, NP_001027019.1:p.Thr21Asn, XP_011511292.1:p.Thr28Ile, XP_011511292.1:p.Thr28Asn, XP_011511291.1:p.Thr28Ile, XP_011511291.1:p.Thr28Asn, XP_011511293.1:p.Thr28Ile, XP_011511293.1:p.Thr28Asn, XP_016862360.1:p.Thr28Ile, XP_016862360.1:p.Thr28Asn, XP_047304540.1:p.Thr21Ile, XP_047304540.1:p.Thr21Asn

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