dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88970471T>G , CM000669.2:g.88970471T>G | GRCh38 |
| NC_000007.13:g.88599785T>G , CM000669.1:g.88599785T>G | GRCh37 |
| NC_000007.12:g.88437721T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333190.5:c.108+210387T>G MANE Select | ENSP00000329638.4:n.108+210387T>G | |
| ENST00000333190.4:c.108+210387T>G | ENSP00000329638.4:n.108+210387T>G | |
| NM_181646.3:c.108+210387T>G | NP_857597.1:n.108+210387T>G | |
| NM_181646.4:c.108+210387T>G | NP_857597.1:n.108+210387T>G | |
| NM_181646.5:c.108+210387T>G MANE Select | NP_857597.1:n.108+210387T>G |