Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200338A>G , CM000671.2:g.137200338A>G | GRCh38 |
| NC_000009.11:g.140094790A>G , CM000671.1:g.140094790A>G | GRCh37 |
| NC_000009.10:g.139214611A>G | NCBI36 |
| NG_027801.1:g.5374T>C | |
| NG_027801.2:g.8856T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.374T>C MANE Select | NP_001121700.2:p.Val125Ala |
| ENST00000409012.6:c.374T>C MANE Select | ENSP00000387100.4:p.Val125Ala |
| NM_001128228.2:c.374T>C | NP_001121700.2:p.Val125Ala |
| ENST00000409012.4:c.374T>C | ENSP00000387100.4:p.Val125Ala |
| ENST00000541945.1:n.90+3766T>C |