Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.100187729A>G , CM000666.2:g.100187729A>G | GRCh38 |
| NC_000004.11:g.101108886A>G , CM000666.1:g.101108886A>G | GRCh37 |
| NC_000004.10:g.101327909A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145244.4:c.530T>C MANE Select | NP_660287.1:p.Val177Ala |
| ENST00000273990.6:c.530T>C MANE Select | ENSP00000354830.2:p.Val177Ala |
| NM_145244.3:c.530T>C | NP_660287.1:p.Val177Ala |
| ENST00000502763.1:c.530T>C | ENSP00000427301.1:p.Val177Ala |
| XM_005262721.1:c.530T>C | XP_005262778.1:p.Val177Ala |