Linked Data
dbSNP Id:
rs1202782643
gnomAD v2:
2-113590299-T-C
gnomAD v3:
2-112832722-T-C
gnomAD v4:
2-112832722-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832722T>C , CM000664.2:g.112832722T>C | GRCh38 |
| NC_000002.11:g.113590299T>C , CM000664.1:g.113590299T>C | GRCh37 |
| NC_000002.10:g.113306770T>C | NCBI36 |
| NG_008851.1:g.9058A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.406A>G MANE Select | ENSP00000263341.2:p.Met136Val | |
| ENST00000263341.6:c.406A>G | ENSP00000263341.2:p.Met136Val | |
| ENST00000418817.5:c.406A>G | ENSP00000407219.1:p.Met136Val | |
| ENST00000487639.1:n.307A>G | ||
| ENST00000491056.5:n.1213A>G | ||
| NM_000576.2:c.406A>G | NP_000567.1:p.Met136Val | |
| XM_006712496.1:c.172A>G | XP_006712559.1:p.Met58Val | |
| XM_017003988.2:c.313A>G | XP_016859477.1:p.Met105Val | |
| NM_000576.3:c.406A>G MANE Select | NP_000567.1:p.Met136Val |