Linked Data
ClinVar Variation Id:
130860
ClinVar RCV Id:
RCV000118976
dbSNP Id:
rs61737963
ExAC:
13:75861063 T / A
gnomAD v2:
13-75861063-T-A
gnomAD v3:
13-75286927-T-A
gnomAD v4:
13-75286927-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75286927T>A , CM000675.2:g.75286927T>A | GRCh38 |
| NC_000013.10:g.75861063T>A , CM000675.1:g.75861063T>A | GRCh37 |
| NC_000013.9:g.74759064T>A | NCBI36 |
| NG_042850.1:g.200242A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377636.8:c.3762A>T MANE Select | ENSP00000366863.3:p.Glu1254Asp | |
| ENST00000648194.1:c.3030A>T | ENSP00000496983.1:p.Glu1010Asp | |
| ENST00000377625.6:c.3573A>T | ENSP00000366852.2:p.Glu1191Asp | |
| ENST00000377636.7:c.3762A>T | ENSP00000366863.3:p.Glu1254Asp | |
| ENST00000431480.6:c.3738A>T | ENSP00000395986.2:p.Glu1246Asp | |
| NM_001286658.1:c.3738A>T | NP_001273587.1:p.Glu1246Asp | |
| NM_001286658.2:c.3738A>T | NP_001273587.1:p.Glu1246Asp | |
| NM_001286659.1:c.3573A>T | NP_001273588.1:p.Glu1191Asp | |
| NM_001286659.2:c.3573A>T | NP_001273588.1:p.Glu1191Asp | |
| NM_014832.3:c.3762A>T | NP_055647.2:p.Glu1254Asp | |
| NM_014832.4:c.3762A>T | NP_055647.2:p.Glu1254Asp | |
| XM_005266603.1:c.3687A>T | XP_005266660.1:p.Glu1229Asp | |
| XM_005266605.1:c.3219A>T | XP_005266662.1:p.Glu1073Asp | |
| XM_006719903.2:c.3288A>T | XP_006719966.1:p.Glu1096Asp | |
| XM_011535331.1:c.3651A>T | XP_011533633.1:p.Glu1217Asp | |
| XM_005266603.2:c.3687A>T | XP_005266660.1:p.Glu1229Asp | |
| XM_005266605.3:c.3219A>T | XP_005266662.1:p.Glu1073Asp | |
| XM_006719903.3:c.3288A>T | XP_006719966.1:p.Glu1096Asp | |
| XM_011535331.2:c.3651A>T | XP_011533633.1:p.Glu1217Asp | |
| XM_017020882.2:c.3030A>T | XP_016876371.1:p.Glu1010Asp | |
| XM_017020883.2:c.2919A>T | XP_016876372.1:p.Glu973Asp | |
| XM_017020884.2:c.1329A>T | XP_016876373.1:p.Glu443Asp | |
| NM_014832.5:c.3762A>T MANE Select | NP_055647.2:p.Glu1254Asp |