Linked Data
dbSNP Id:
rs779064002
ExAC:
12:116420323 T / C
gnomAD v2:
12-116420323-T-C
gnomAD v4:
12-115982518-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982518T>C , CM000674.2:g.115982518T>C | GRCh38 |
| NC_000012.11:g.116420323T>C , CM000674.1:g.116420323T>C | GRCh37 |
| NC_000012.10:g.114904706T>C | NCBI36 |
| NG_023366.1:g.299669A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5041A>G MANE Select | ENSP00000281928.3:p.Met1681Val | |
| ENST00000549786.2:c.4469A>G | ||
| ENST00000648379.1:n.3409A>G | ||
| ENST00000648737.1:n.4805A>G | ||
| ENST00000648825.1:n.1781A>G | ||
| ENST00000648916.1:n.3052A>G | ||
| ENST00000649146.1:n.2284A>G | ||
| ENST00000649607.1:c.3225A>G | ||
| ENST00000649775.1:c.1530A>G | ||
| ENST00000650226.1:c.5041A>G | ENSP00000496981.1:p.Met1681Val | |
| ENST00000281928.7:c.5041A>G | ENSP00000281928.3:p.Met1681Val | |
| ENST00000549786.1:c.405A>G | ||
| ENST00000552340.1:c.73A>G | ENSP00000449876.1:p.Met25Val | |
| NM_015335.4:c.5041A>G | NP_056150.1:p.Met1681Val | |
| XM_011538080.1:c.5041A>G | XP_011536382.1:p.Met1681Val | |
| XM_011538081.1:c.5038A>G | XP_011536383.1:p.Met1680Val | |
| XM_011538082.1:c.5011A>G | XP_011536384.1:p.Met1671Val | |
| XM_011538080.2:c.5041A>G | XP_011536382.1:p.Met1681Val | |
| XM_011538081.2:c.5038A>G | XP_011536383.1:p.Met1680Val | |
| XM_011538082.2:c.5011A>G | XP_011536384.1:p.Met1671Val | |
| XM_017019090.1:c.5038A>G | XP_016874579.1:p.Met1680Val | |
| NM_015335.5:c.5041A>G MANE Select | NP_056150.1:p.Met1681Val |