Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151266741T>G , CM000667.2:g.151266741T>G | GRCh38 |
| NC_000005.9:g.150646302T>G , CM000667.1:g.150646302T>G | GRCh37 |
| NC_000005.8:g.150626495T>G | NCBI36 |
| NG_009059.1:g.18690T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.254T>G MANE Select | ENSP00000349687.3:p.Val85Gly | |
| ENST00000357164.3:c.254T>G | ENSP00000349687.3:p.Val85Gly | |
| ENST00000523004.1:c.129T>G | ||
| ENST00000523466.5:c.299T>G | ENSP00000429100.1:p.Val100Gly | |
| NM_000405.4:c.254T>G | NP_000396.2:p.Val85Gly | |
| NM_001167607.1:c.254T>G | NP_001161079.1:p.Val85Gly | |
| NM_000405.5:c.254T>G MANE Select | NP_000396.2:p.Val85Gly | |
| NM_001167607.2:c.254T>G | NP_001161079.1:p.Val85Gly | |
| NM_001167607.3:c.254T>G | NP_001161079.1:p.Val85Gly |