Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124858059C>A , CM000671.2:g.124858059C>A | GRCh38 |
| NC_000009.11:g.127620338C>A , CM000671.1:g.127620338C>A | GRCh37 |
| NC_000009.10:g.126660159C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007209.4:c.231G>T MANE Select | NP_009140.1:p.Lys77Asn |
| ENST00000348462.6:c.231G>T MANE Select | ENSP00000259469.4:p.Lys77Asn |
| NM_007209.3:c.231G>T | NP_009140.1:p.Lys77Asn |
| ENST00000348462.5:c.231G>T | ENSP00000259469.4:p.Lys77Asn |
| ENST00000373570.8:c.*20G>T | ENSP00000362671.4:n.*20G>T |
| ENST00000487431.1:n.609G>T | |
| ENST00000493018.5:c.*202G>T | ENSP00000437215.1:n.*202G>T |