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