Linked Data
dbSNP Id:
rs1051921
gnomAD v2:
7-73007943-G-A
gnomAD v3:
7-73593613-G-A
gnomAD v4:
7-73593613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73593613G>A , CM000669.2:g.73593613G>A | GRCh38 |
| NC_000007.13:g.73007943G>A , CM000669.1:g.73007943G>A | GRCh37 |
| NC_000007.12:g.72645879G>A | NCBI36 |
| NG_009307.1:g.35928C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313375.8:c.*252C>T MANE Select | ENSP00000320886.3:n.*252C>T | |
| ENST00000313375.7:c.*252C>T | ENSP00000320886.3:n.*252C>T | |
| ENST00000345114.9:c.2660C>T | ENSP00000343767.5:n.2660C>T | |
| ENST00000354613.5:c.*252C>T | ENSP00000346629.1:n.*252C>T | |
| ENST00000414749.6:c.2805C>T | ENSP00000412330.2:n.2805C>T | |
| ENST00000429400.6:c.2754C>T | ENSP00000406296.2:n.2754C>T | |
| ENST00000434326.5:c.*653C>T | ENSP00000392636.1:n.*653C>T | |
| NM_032951.2:c.*252C>T | NP_116569.1:n.*252C>T | |
| NM_032952.2:c.*252C>T | NP_116570.1:n.*252C>T | |
| NM_032953.2:c.*252C>T | NP_116571.1:n.*252C>T | |
| NM_032954.2:c.*252C>T | NP_116572.1:n.*252C>T | |
| XM_011516277.1:c.*252C>T | XP_011514579.1:n.*252C>T | |
| XM_011516278.1:c.*252C>T | XP_011514580.1:n.*252C>T | |
| XM_011516279.1:c.*252C>T | XP_011514581.1:n.*252C>T | |
| XM_011516280.1:c.*252C>T | XP_011514582.1:n.*252C>T | |
| XM_011516281.1:c.*252C>T | XP_011514583.1:n.*252C>T | |
| XR_927475.1:n.2690C>T | ||
| NR_134541.1:n.2711C>T | ||
| XM_011516281.2:c.*252C>T | XP_011514583.1:n.*252C>T | |
| XM_017012263.1:c.*252C>T | XP_016867752.1:n.*252C>T | |
| XM_024446784.1:c.*252C>T | XP_024302552.1:n.*252C>T | |
| XR_001744799.1:n.2885C>T | ||
| NM_032951.3:c.*252C>T MANE Select | NP_116569.1:n.*252C>T | |
| NM_032952.3:c.*252C>T | NP_116570.1:n.*252C>T | |
| NM_032953.3:c.*252C>T | NP_116571.1:n.*252C>T | |
| NM_032954.3:c.*252C>T | NP_116572.1:n.*252C>T | |
| NR_134541.2:n.2690C>T |