Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163324702A>G , CM000666.2:g.163324702A>G | GRCh38 |
| NC_000004.11:g.164245854A>G , CM000666.1:g.164245854A>G | GRCh37 |
| NC_000004.10:g.164465304A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000909.6:c.*601T>C MANE Select | NP_000900.1:n.*601T>C |
| ENST00000296533.3:c.*601T>C MANE Select | ENSP00000354652.2:n.*601T>C |
| NM_000909.5:c.*601T>C | NP_000900.1:n.*601T>C |
| ENST00000296533.2:c.*601T>C | ENSP00000354652.2:n.*601T>C |
| XM_005263031.2:c.*601T>C | XP_005263088.1:n.*601T>C |
| XM_005263031.4:c.*601T>C | XP_005263088.1:n.*601T>C |
| XM_011532010.1:c.*601T>C | XP_011530312.1:n.*601T>C |
| XM_011532010.3:c.*601T>C | XP_011530312.1:n.*601T>C |