Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905817G>T , CM000671.2:g.26905817G>T | GRCh38 |
| NC_000009.11:g.26905815G>T , CM000671.1:g.26905815G>T | GRCh37 |
| NC_000009.10:g.26895815G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.2082C>A MANE Select | ENSP00000380460.3:p.Ser694Arg | |
| ENST00000397292.7:c.2082C>A | ENSP00000380460.3:p.Ser694Arg | |
| NM_001031689.2:c.2082C>A | NP_001026859.1:p.Ser694Arg | |
| XM_011518071.1:c.2013C>A | XP_011516373.1:p.Ser671Arg | |
| NM_001321546.1:c.2013C>A | NP_001308475.1:p.Ser671Arg | |
| XR_001746420.2:n.2387C>A | ||
| NM_001031689.3:c.2082C>A MANE Select | NP_001026859.1:p.Ser694Arg | |
| NM_001321546.2:c.2013C>A | NP_001308475.1:p.Ser671Arg |