Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50184954G>T , CM000679.2:g.50184954G>T | GRCh38 |
| NC_000017.10:g.48262315G>T , CM000679.1:g.48262315G>T | GRCh37 |
| NC_000017.9:g.45617314G>T | NCBI36 |
| NG_007400.1:g.21686C>A , LRG_1:g.21686C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.*548C>A MANE Select | NP_000079.2:n.*548C>A |
| ENST00000225964.10:c.*548C>A MANE Select | ENSP00000225964.6:n.*548C>A |
| NM_000088.3:c.*548C>A , LRG_1t1:c.*548C>A | NP_000079.2:n.*548C>A |
| ENST00000225964.9:c.*548C>A | ENSP00000225964.5:n.*548C>A |
| XM_005257058.3:c.*548C>A | XP_005257115.2:n.*548C>A |
| XM_005257058.4:c.*548C>A | XP_005257115.2:n.*548C>A |
| XM_005257059.3:c.*548C>A | XP_005257116.2:n.*548C>A |
| XM_005257059.4:c.*548C>A | XP_005257116.2:n.*548C>A |
| XM_011524341.1:c.*548C>A | XP_011522643.1:n.*548C>A |