Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163324728C>T , CM000666.2:g.163324728C>T | GRCh38 |
| NC_000004.11:g.164245880C>T , CM000666.1:g.164245880C>T | GRCh37 |
| NC_000004.10:g.164465330C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296533.3:c.*575G>A MANE Select | ENSP00000354652.2:n.*575G>A | |
| ENST00000296533.2:c.*575G>A | ENSP00000354652.2:n.*575G>A | |
| NM_000909.5:c.*575G>A | NP_000900.1:n.*575G>A | |
| XM_005263031.2:c.*575G>A | XP_005263088.1:n.*575G>A | |
| XM_011532010.1:c.*575G>A | XP_011530312.1:n.*575G>A | |
| XM_005263031.4:c.*575G>A | XP_005263088.1:n.*575G>A | |
| XM_011532010.3:c.*575G>A | XP_011530312.1:n.*575G>A | |
| NM_000909.6:c.*575G>A MANE Select | NP_000900.1:n.*575G>A |