Linked Data
dbSNP Id:
rs1462831741
gnomAD v2:
1-17312529-G-T
gnomAD v3:
1-16986034-G-T
gnomAD v4:
1-16986034-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986034G>T , CM000663.2:g.16986034G>T | GRCh38 |
| NC_000001.10:g.17312529G>T , CM000663.1:g.17312529G>T | GRCh37 |
| NC_000001.9:g.17185116G>T | NCBI36 |
| NG_009054.1:g.30895C>A | |
| NG_029688.1:g.553C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.*187C>A MANE Select | ENSP00000327214.8:n.*187C>A | |
| ENST00000326735.12:c.*187C>A | ENSP00000327214.8:n.*187C>A | |
| ENST00000341676.9:c.3428C>A | ENSP00000341115.5:p.Pro1143Gln | |
| ENST00000452699.5:c.*187C>A | ENSP00000413307.1:n.*187C>A | |
| ENST00000466561.1:n.1776C>A | ||
| ENST00000502418.1:c.1148C>A | ENSP00000423065.1:p.Pro383Gln | |
| NM_001141973.2:c.*187C>A | NP_001135445.1:n.*187C>A | |
| NM_001141974.2:c.3428C>A | NP_001135446.1:p.Pro1143Gln | |
| NM_022089.3:c.*187C>A | NP_071372.1:n.*187C>A | |
| XM_005245809.1:c.3560C>A | XP_005245866.1:p.Pro1187Gln | |
| XM_005245810.1:c.3557C>A | XP_005245867.1:p.Pro1186Gln | |
| XM_005245811.1:c.3545C>A | XP_005245868.1:p.Pro1182Gln | |
| XM_005245812.1:c.3533C>A | XP_005245869.1:p.Pro1178Gln | |
| XM_005245813.1:c.3500C>A | XP_005245870.1:p.Pro1167Gln | |
| XM_005245815.1:c.3443C>A | XP_005245872.1:p.Pro1148Gln | |
| XM_006710512.1:c.3542C>A | XP_006710575.1:p.Pro1181Gln | |
| XM_006710513.1:c.3518C>A | XP_006710576.1:p.Pro1173Gln | |
| XM_011541128.1:c.3545C>A | XP_011539430.1:p.Pro1182Gln | |
| XM_011541129.1:c.3353C>A | XP_011539431.1:p.Pro1118Gln | |
| XM_017000844.1:c.*187C>A | XP_016856333.1:n.*187C>A | |
| XM_017000845.1:c.*187C>A | XP_016856334.1:n.*187C>A | |
| XM_017000846.1:c.*187C>A | XP_016856335.1:n.*187C>A | |
| XM_017000847.1:c.*187C>A | XP_016856336.1:n.*187C>A | |
| XM_017000848.1:c.*187C>A | XP_016856337.1:n.*187C>A | |
| XM_017000849.1:c.*187C>A | XP_016856338.1:n.*187C>A | |
| XM_017000850.1:c.*187C>A | XP_016856339.1:n.*187C>A | |
| NM_022089.4:c.*187C>A MANE Select | NP_071372.1:n.*187C>A | |
| NM_001141973.3:c.*187C>A | NP_001135445.1:n.*187C>A | |
| NM_001141974.3:c.3428C>A | NP_001135446.1:p.Pro1143Gln |