Linked Data
dbSNP Id:
rs2071152
ExAC:
21:45503121 G / A
gnomAD v2:
21-45503121-G-A
gnomAD v3:
21-44083240-G-A
gnomAD v4:
21-44083240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44083240G>A , CM000683.2:g.44083240G>A | GRCh38 |
| NC_000021.8:g.45503121G>A , CM000683.1:g.45503121G>A | GRCh37 |
| NC_000021.7:g.44327549G>A | NCBI36 |
| NG_008658.1:g.75916G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291574.9:c.2176G>A MANE Select | ENSP00000291574.4:p.Val726Met | |
| ENST00000291574.8:c.2176G>A | ENSP00000291574.4:p.Val726Met | |
| ENST00000422875.5:c.*1494G>A | ENSP00000402221.1:n.*1494G>A | |
| NM_003274.4:c.2176G>A | NP_003265.3:p.Val726Met | |
| XM_005261168.3:c.2176G>A | XP_005261225.1:p.Val726Met | |
| XM_006724047.2:c.2176G>A | XP_006724110.1:p.Val726Met | |
| XM_011529714.1:c.2176G>A | XP_011528016.1:p.Val726Met | |
| XM_011529715.1:c.2176G>A | XP_011528017.1:p.Val726Met | |
| XM_011529716.1:c.2029G>A | XP_011528018.1:p.Val677Met | |
| XM_011529717.1:c.2176G>A | XP_011528019.1:p.Val726Met | |
| XM_011529718.1:c.2176G>A | XP_011528020.1:p.Val726Met | |
| XM_011529719.1:c.1732G>A | XP_011528021.1:p.Val578Met | |
| XM_011529720.1:c.2176G>A | XP_011528022.1:p.Val726Met | |
| XM_011529721.1:c.1609G>A | XP_011528023.1:p.Val537Met | |
| XM_011529722.1:c.1564G>A | XP_011528024.1:p.Val522Met | |
| XM_011529723.1:c.1474G>A | XP_011528025.1:p.Val492Met | |
| XM_011529724.1:c.2176G>A | XP_011528026.1:p.Val726Met | |
| XM_011529725.1:c.2176G>A | XP_011528027.1:p.Val726Met | |
| XM_011529726.1:c.2176G>A | XP_011528028.1:p.Val726Met | |
| XM_011529727.1:c.1309G>A | XP_011528029.1:p.Val437Met | |
| XM_011529728.1:c.1309G>A | XP_011528030.1:p.Val437Met | |
| XM_011529729.1:c.1162G>A | XP_011528031.1:p.Val388Met | |
| XM_011529730.1:c.2176G>A | XP_011528032.1:p.Val726Met | |
| XR_937558.1:n.2301G>A | ||
| XR_937561.1:n.2301G>A | ||
| NM_001351709.1:c.775G>A | NP_001338638.1:p.Val259Met | |
| XM_005261168.4:c.2176G>A | XP_005261225.1:p.Val726Met | |
| XM_011529714.2:c.2176G>A | XP_011528016.1:p.Val726Met | |
| XM_011529715.2:c.2176G>A | XP_011528017.1:p.Val726Met | |
| XM_011529716.2:c.2029G>A | XP_011528018.1:p.Val677Met | |
| XM_011529717.2:c.2176G>A | XP_011528019.1:p.Val726Met | |
| XM_011529718.2:c.2176G>A | XP_011528020.1:p.Val726Met | |
| XM_011529719.2:c.1732G>A | XP_011528021.1:p.Val578Met | |
| XM_011529720.2:c.2176G>A | XP_011528022.1:p.Val726Met | |
| XM_011529721.2:c.1609G>A | XP_011528023.1:p.Val537Met | |
| XM_011529722.2:c.1564G>A | XP_011528024.1:p.Val522Met | |
| XM_011529723.2:c.1474G>A | XP_011528025.1:p.Val492Met | |
| XM_011529725.2:c.2176G>A | XP_011528027.1:p.Val726Met | |
| XM_011529726.2:c.2176G>A | XP_011528028.1:p.Val726Met | |
| XM_011529727.2:c.1309G>A | XP_011528029.1:p.Val437Met | |
| XM_011529728.3:c.1309G>A | XP_011528030.1:p.Val437Met | |
| XM_011529729.2:c.1162G>A | XP_011528031.1:p.Val388Met | |
| XM_011529730.2:c.2176G>A | XP_011528032.1:p.Val726Met | |
| XM_017028454.2:c.2029G>A | XP_016883943.1:p.Val677Met | |
| XM_024452128.1:c.1603G>A | XP_024307896.1:p.Val535Met | |
| XR_001754893.1:n.2338G>A | ||
| XR_001754895.1:n.2338G>A | ||
| XR_001754896.1:n.2338G>A | ||
| XR_937558.2:n.2338G>A | ||
| NM_003274.5:c.2176G>A MANE Select | NP_003265.3:p.Val726Met |