dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7037074G>C , CM000679.2:g.7037074G>C | GRCh38 |
| NC_000017.10:g.6940393G>C , CM000679.1:g.6940393G>C | GRCh37 |
| NC_000017.9:g.6881117G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308027.7:c.343+204G>C MANE Select | ENSP00000309751.6:n.343+204G>C | |
| ENST00000308027.6:c.343+204G>C | ENSP00000309751.6:n.343+204G>C | |
| NM_201566.2:c.343+204G>C | NP_963860.1:n.343+204G>C | |
| NM_201566.3:c.343+204G>C MANE Select | NP_963860.1:n.343+204G>C |