Linked Data
dbSNP Id:
rs776841951
ExAC:
9:133748390 A / G
gnomAD v2:
9-133748390-A-G
gnomAD v4:
9-130873003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130873003A>G , CM000671.2:g.130873003A>G | GRCh38 |
| NC_000009.11:g.133748390A>G , CM000671.1:g.133748390A>G | GRCh37 |
| NC_000009.10:g.132738211A>G | NCBI36 |
| NG_012034.1:g.164123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.1108A>G | ENSP00000361423.2:p.Met370Val | |
| ENST00000318560.6:c.1051A>G MANE Select | ENSP00000323315.5:p.Met351Val | |
| ENST00000372348.7:c.1108A>G | ENSP00000361423.2:p.Met370Val | |
| ENST00000318560.5:c.1051A>G | ENSP00000323315.5:p.Met351Val | |
| ENST00000372348.6:c.1108A>G | ENSP00000361423.2:p.Met370Val | |
| NM_005157.5:c.1051A>G | NP_005148.2:p.Met351Val | |
| NM_007313.2:c.1108A>G | NP_009297.2:p.Met370Val | |
| NM_005157.6:c.1051A>G MANE Select | NP_005148.2:p.Met351Val | |
| NM_007313.3:c.1108A>G | NP_009297.2:p.Met370Val |