Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163324712G>T , CM000666.2:g.163324712G>T | GRCh38 |
| NC_000004.11:g.164245864G>T , CM000666.1:g.164245864G>T | GRCh37 |
| NC_000004.10:g.164465314G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296533.3:c.*591C>A MANE Select | ENSP00000354652.2:n.*591C>A | |
| ENST00000296533.2:c.*591C>A | ENSP00000354652.2:n.*591C>A | |
| NM_000909.5:c.*591C>A | NP_000900.1:n.*591C>A | |
| XM_005263031.2:c.*591C>A | XP_005263088.1:n.*591C>A | |
| XM_011532010.1:c.*591C>A | XP_011530312.1:n.*591C>A | |
| XM_005263031.4:c.*591C>A | XP_005263088.1:n.*591C>A | |
| XM_011532010.3:c.*591C>A | XP_011530312.1:n.*591C>A | |
| NM_000909.6:c.*591C>A MANE Select | NP_000900.1:n.*591C>A |