Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176732444C>A , CM000666.2:g.176732444C>A | GRCh38 |
| NC_000004.11:g.177653598C>A , CM000666.1:g.177653598C>A | GRCh37 |
| NC_000004.10:g.177890592C>A | NCBI36 |
| NG_034216.1:g.65302G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005429.5:c.148-2698G>T MANE Select | NP_005420.1:n.148-2698G>T |
| ENST00000618562.2:c.148-2698G>T MANE Select | ENSP00000480043.1:n.148-2698G>T |
| NM_005429.4:c.148-2698G>T | NP_005420.1:n.148-2698G>T |
| ENST00000618562.1:c.148-2698G>T | ENSP00000480043.1:n.148-2698G>T |