Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86282430A>C , CM000671.2:g.86282430A>C | GRCh38 |
| NC_000009.11:g.88897345A>C , CM000671.1:g.88897345A>C | GRCh37 |
| NC_000009.10:g.88087165A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030940.4:c.29T>G MANE Select | NP_112202.2:p.Val10Gly |
| ENST00000375991.9:c.29T>G MANE Select | ENSP00000365159.4:p.Val10Gly |
| NM_030940.3:c.29T>G | NP_112202.2:p.Val10Gly |
| ENST00000326094.4:c.29T>G | ENSP00000365157.1:p.Val10Gly |
| ENST00000375991.8:c.29T>G | ENSP00000365159.4:p.Val10Gly |
| ENST00000637705.1:c.18+472T>G | ENSP00000489740.1:n.18+472T>G |