Linked Data
dbSNP Id:
rs767564383
ExAC:
7:19156899 T / C
gnomAD v2:
7-19156899-T-C
gnomAD v4:
7-19117276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117276T>C , CM000669.2:g.19117276T>C | GRCh38 |
| NC_000007.13:g.19156899T>C , CM000669.1:g.19156899T>C | GRCh37 |
| NC_000007.12:g.19123424T>C | NCBI36 |
| NG_008114.1:g.5397A>G | |
| NG_008114.2:g.5397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.46A>G MANE Select | ENSP00000242261.5:p.Ser16Gly | |
| ENST00000242261.5:c.46A>G | ENSP00000242261.5:p.Ser16Gly | |
| NM_000474.3:c.46A>G | NP_000465.1:p.Ser16Gly | |
| XM_011515496.1:c.46A>G | XP_011513798.1:p.Ser16Gly | |
| NR_149001.1:n.397A>G | ||
| NM_000474.4:c.46A>G MANE Select | NP_000465.1:p.Ser16Gly | |
| NR_149001.2:n.361A>G |