Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50106895T>C , CM000674.2:g.50106895T>C | GRCh38 |
| NC_000012.11:g.50500678T>C , CM000674.1:g.50500678T>C | GRCh37 |
| NC_000012.10:g.48786945T>C | NCBI36 |
| NG_032168.1:g.8077T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005276.4:c.590T>C MANE Select | NP_005267.2:p.Val197Ala |
| ENST00000301149.8:c.590T>C MANE Select | ENSP00000301149.3:p.Val197Ala |
| NM_001257199.1:c.521T>C | NP_001244128.1:p.Val174Ala |
| NM_001257199.2:c.521T>C | NP_001244128.1:p.Val174Ala |
| NM_005276.3:c.590T>C | NP_005267.2:p.Val197Ala |
| ENST00000301149.7:c.590T>C | ENSP00000301149.3:p.Val197Ala |
| ENST00000547190.5:n.633T>C | |
| ENST00000548152.1:n.522T>C | |
| ENST00000548814.1:c.521T>C | ENSP00000446768.1:p.Val174Ala |
| ENST00000550172.1:n.773T>C |