dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42264802A>C , CM000665.2:g.42264802A>C | GRCh38 |
| NC_000003.11:g.42306294A>C , CM000665.1:g.42306294A>C | GRCh37 |
| NC_000003.10:g.42281298A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396169.7:c.-108T>G MANE Select | ENSP00000379472.2:n.-108T>G | |
| ENST00000334681.9:c.-108T>G | ENSP00000335657.5:n.-108T>G | |
| ENST00000396169.6:c.-108T>G | ENSP00000379472.2:n.-108T>G | |
| NM_000729.4:c.-108T>G | NP_000720.1:n.-108T>G | |
| NM_000729.5:c.-108T>G | NP_000720.1:n.-108T>G | |
| NM_000729.6:c.-108T>G MANE Select | NP_000720.1:n.-108T>G |