Linked Data
dbSNP Id:
rs767538728
ExAC:
8:23049383 T / C
gnomAD v2:
8-23049383-T-C
gnomAD v4:
8-23191870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191870T>C , CM000670.2:g.23191870T>C | GRCh38 |
| NC_000008.10:g.23049383T>C , CM000670.1:g.23049383T>C | GRCh37 |
| NC_000008.9:g.23105328T>C | NCBI36 |
| NG_032107.1:g.38298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1231A>G MANE Select | ENSP00000221132.3:p.Met411Val | |
| ENST00000221132.7:c.1231A>G | ENSP00000221132.3:p.Met411Val | |
| ENST00000519862.1:n.286A>G | ||
| ENST00000613472.1:c.757A>G | ENSP00000480778.1:p.Met253Val | |
| NM_003844.3:c.1231A>G | NP_003835.3:p.Met411Val | |
| NM_003844.4:c.1231A>G MANE Select | NP_003835.3:p.Met411Val |