dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97553948C>G , CM000671.2:g.97553948C>G | GRCh38 |
| NC_000009.11:g.100316230C>G , CM000671.1:g.100316230C>G | GRCh37 |
| NC_000009.10:g.99356051C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259365.9:c.397+548C>G MANE Select | ENSP00000259365.3:n.397+548C>G | |
| ENST00000259365.8:c.397+548C>G | ENSP00000259365.3:n.397+548C>G | |
| ENST00000395211.6:c.397+548C>G | ENSP00000378637.2:n.397+548C>G | |
| NM_001166116.1:c.397+548C>G | NP_001159588.1:n.397+548C>G | |
| NM_003275.3:c.397+548C>G | NP_003266.1:n.397+548C>G | |
| XM_024447660.1:c.-12+548C>G | XP_024303428.1:n.-12+548C>G | |
| NM_003275.4:c.397+548C>G MANE Select | NP_003266.1:n.397+548C>G | |
| NM_001166116.2:c.397+548C>G | NP_001159588.1:n.397+548C>G |