dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.639274G>C , CM000673.2:g.639274G>C | GRCh38 |
| NC_000011.9:g.639274G>C , CM000673.1:g.639274G>C | GRCh37 |
| NC_000011.8:g.629274G>C | NCBI36 |
| NG_021241.1:g.6970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.286-159G>C MANE Select | ENSP00000176183.5:n.286-159G>C | |
| ENST00000176183.5:c.286-159G>C | ENSP00000176183.5:n.286-159G>C | |
| ENST00000528733.1:n.102+116G>C | ||
| NM_000797.3:c.286-159G>C | NP_000788.2:n.286-159G>C | |
| NM_000797.4:c.286-159G>C MANE Select | NP_000788.2:n.286-159G>C |