Linked Data
ClinVar Variation Id:
210485
ClinVar RCV Id:
RCV000193725
dbSNP Id:
rs749085322
ExAC:
13:52515268 T / C
gnomAD v2:
13-52515268-T-C
gnomAD v3:
13-51941132-T-C
gnomAD v4:
13-51941132-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941132T>C , CM000675.2:g.51941132T>C | GRCh38 |
| NC_000013.10:g.52515268T>C , CM000675.1:g.52515268T>C | GRCh37 |
| NC_000013.9:g.51413269T>C | NCBI36 |
| NG_008806.1:g.75363A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1155A>G | ENSP00000489512.2:n.*1155A>G | |
| ENST00000673864.2:c.*2249A>G | ENSP00000501045.2:n.*2249A>G | |
| ENST00000674147.2:c.2884A>G | ENSP00000500964.2:p.Met962Val | |
| ENST00000242839.10:c.3505A>G MANE Select | ENSP00000242839.5:p.Met1169Val | |
| ENST00000344297.9:c.2884A>G | ENSP00000342559.5:p.Met962Val | |
| ENST00000400366.6:c.3172A>G | ENSP00000383217.3:p.Met1058Val | |
| ENST00000448424.7:c.3253A>G | ENSP00000416738.3:p.Met1085Val | |
| ENST00000673772.1:c.3271A>G | ENSP00000501168.1:p.Met1091Val | |
| ENST00000673867.1:n.3644A>G | ||
| ENST00000674126.1:n.3868A>G | ||
| ENST00000674147.1:c.2440A>G | ENSP00000500964.1:p.Met814Val | |
| ENST00000242839.8:c.3505A>G | ENSP00000242839.4:p.Met1169Val | |
| ENST00000344297.8:c.2884A>G | ENSP00000342559.5:p.Met962Val | |
| ENST00000400366.5:c.3172A>G | ENSP00000383217.3:p.Met1058Val | |
| ENST00000400370.8:c.2215A>G | ENSP00000383221.3:p.Met739Val | |
| ENST00000418097.7:c.3310A>G | ENSP00000393343.2:p.Met1104Val | |
| ENST00000448424.6:c.3271A>G | ENSP00000416738.2:p.Met1091Val | |
| ENST00000634296.1:c.1283A>G | ||
| ENST00000634308.1:c.*606A>G | ENSP00000489234.1:n.*606A>G | |
| ENST00000634620.1:n.4249A>G | ||
| ENST00000634810.1:n.2850A>G | ||
| ENST00000634844.1:c.3361A>G | ENSP00000489398.1:p.Met1121Val | |
| NM_000053.3:c.3505A>G | NP_000044.2:p.Met1169Val | |
| NM_001005918.2:c.2884A>G | NP_001005918.1:p.Met962Val | |
| NM_001243182.1:c.3172A>G | NP_001230111.1:p.Met1058Val | |
| XM_005266423.2:c.3409A>G | XP_005266480.1:p.Met1137Val | |
| XM_005266424.3:c.3409A>G | XP_005266481.1:p.Met1137Val | |
| XM_005266427.2:c.3271A>G | XP_005266484.1:p.Met1091Val | |
| XM_005266428.1:c.3253A>G | XP_005266485.1:p.Met1085Val | |
| XM_005266430.3:c.3505A>G | XP_005266487.1:p.Met1169Val | |
| XM_005266431.2:c.3469A>G | XP_005266488.1:p.Met1157Val | |
| XM_005266432.2:c.3019A>G | XP_005266489.1:p.Met1007Val | |
| XM_006719837.2:c.3409A>G | XP_006719900.1:p.Met1137Val | |
| XM_006719838.1:c.1321A>G | XP_006719901.1:p.Met441Val | |
| XM_006719839.1:c.1138A>G | XP_006719902.1:p.Met380Val | |
| XM_011535117.1:c.3409A>G | XP_011533419.1:p.Met1137Val | |
| XM_011535118.1:c.3370A>G | XP_011533420.1:p.Met1124Val | |
| XM_011535119.1:c.3322A>G | XP_011533421.1:p.Met1108Val | |
| XM_011535120.1:c.3091A>G | XP_011533422.1:p.Met1031Val | |
| XM_011535121.1:c.2992A>G | XP_011533423.1:p.Met998Val | |
| XM_011535122.1:c.2173A>G | XP_011533424.1:p.Met725Val | |
| XR_941601.1:n.3724A>G | ||
| XR_941602.1:n.3724A>G | ||
| XR_941603.1:n.3724A>G | ||
| XR_941604.1:n.3724A>G | ||
| NM_001330578.1:c.3271A>G | NP_001317507.1:p.Met1091Val | |
| NM_001330579.1:c.3253A>G | NP_001317508.1:p.Met1085Val | |
| XM_005266424.4:c.3409A>G | XP_005266481.1:p.Met1137Val | |
| XM_005266430.4:c.3505A>G | XP_005266487.1:p.Met1169Val | |
| XM_005266431.4:c.3469A>G | XP_005266488.1:p.Met1157Val | |
| XM_006719837.3:c.3409A>G | XP_006719900.1:p.Met1137Val | |
| XM_011535117.3:c.3409A>G | XP_011533419.1:p.Met1137Val | |
| XM_017020627.1:c.3409A>G | XP_016876116.1:p.Met1137Val | |
| NM_000053.4:c.3505A>G MANE Select | NP_000044.2:p.Met1169Val | |
| NM_001005918.3:c.2884A>G | NP_001005918.1:p.Met962Val | |
| NM_001330579.2:c.3253A>G | NP_001317508.1:p.Met1085Val | |
| NM_001243182.2:c.3172A>G | NP_001230111.1:p.Met1058Val | |
| NM_001330578.2:c.3271A>G | NP_001317507.1:p.Met1091Val |