Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123393642C>T , CM000668.2:g.123393642C>T | GRCh38 |
| NC_000006.11:g.123714787C>T , CM000668.1:g.123714787C>T | GRCh37 |
| NC_000006.10:g.123756486C>T | NCBI36 |
| NG_030438.1:g.248452G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1087G>A MANE Select | NP_006064.2:p.Val363Ile |
| ENST00000334268.9:c.1087G>A MANE Select | ENSP00000333984.5:p.Val363Ile |
| NM_001251987.1:c.1090G>A | NP_001238916.1:p.Val364Ile |
| NM_001251987.2:c.1090G>A | NP_001238916.1:p.Val364Ile |
| NM_006073.3:c.1087G>A | NP_006064.2:p.Val363Ile |
| ENST00000334268.8:c.1087G>A | ENSP00000333984.5:p.Val363Ile |
| ENST00000662930.1:c.1090G>A | ENSP00000499585.1:p.Val364Ile |
| XM_011535382.1:c.1087G>A | XP_011533684.1:p.Val363Ile |