Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180300957C>T , CM000667.2:g.180300957C>T | GRCh38 |
| NC_000005.9:g.179727957C>T , CM000667.1:g.179727957C>T | GRCh37 |
| NC_000005.8:g.179660563C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005110.4:c.*607G>A MANE Select | NP_005101.1:n.*607G>A |
| ENST00000253778.13:c.*607G>A MANE Select | ENSP00000253778.8:n.*607G>A |
| NM_005110.2:c.*607G>A | NP_005101.1:n.*607G>A |
| NM_005110.3:c.*607G>A | NP_005101.1:n.*607G>A |
| ENST00000253778.12:c.*607G>A | ENSP00000253778.8:n.*607G>A |
| XM_006714942.1:c.*607G>A | XP_006715005.1:n.*607G>A |
| XM_006714942.2:c.*607G>A | XP_006715005.1:n.*607G>A |
| XM_017010100.2:c.*607G>A | XP_016865589.1:n.*607G>A |
| XR_001742394.1:n.3180G>A |