gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79026002G>T , CM000668.2:g.79026002G>T | GRCh38 |
| NC_000006.11:g.79735719G>T , CM000668.1:g.79735719G>T | GRCh37 |
| NC_000006.10:g.79792438G>T | NCBI36 |
| NG_051932.1:g.57297C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700012.1:c.781C>A | ENSP00000514753.1:p.Arg261= | |
| ENST00000700013.1:c.781C>A | ENSP00000514754.1:p.Arg261= | |
| ENST00000700114.1:c.703C>A | ENSP00000514808.1:p.Arg235= | |
| ENST00000700115.1:c.763C>A | ENSP00000514809.1:p.Arg255= | |
| ENST00000700118.1:c.763C>A | ENSP00000514810.1:p.Arg255= | |
| ENST00000700119.1:c.*574C>A | ENSP00000514811.1:n.*574C>A | |
| ENST00000275034.5:c.763C>A MANE Select | ENSP00000275034.3:p.Arg255= | |
| ENST00000275034.4:c.763C>A | ENSP00000275034.3:p.Arg255= | |
| NM_017934.5:c.763C>A | NP_060404.3:p.Arg255= | |
| XM_005248729.3:c.763C>A | XP_005248786.1:p.Arg255= | |
| XM_011535917.1:c.763C>A | XP_011534219.1:p.Arg255= | |
| XM_011535918.1:c.247C>A | XP_011534220.1:p.Arg83= | |
| XM_011535919.1:c.763C>A | XP_011534221.1:p.Arg255= | |
| XR_942499.1:n.989C>A | ||
| NM_017934.6:c.763C>A | NP_060404.4:p.Arg255= | |
| XM_005248729.5:c.763C>A | XP_005248786.1:p.Arg255= | |
| XM_011535918.3:c.247C>A | XP_011534220.1:p.Arg83= | |
| XM_017010989.2:c.-967C>A | XP_016866478.1:n.-967C>A | |
| XM_017010990.2:c.-967C>A | XP_016866479.1:n.-967C>A | |
| NM_017934.7:c.763C>A MANE Select | NP_060404.4:p.Arg255= |