dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109272630A>C , CM000663.2:g.109272630A>C | GRCh38 |
| NC_000001.10:g.109815252A>C , CM000663.1:g.109815252A>C | GRCh37 |
| NC_000001.9:g.109616775A>C | NCBI36 |
| NG_052669.1:g.27926A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.8055-10A>C MANE Select | ENSP00000271332.3:n.8055-10A>C | |
| ENST00000271332.3:c.8055-10A>C | ENSP00000271332.3:n.8055-10A>C | |
| ENST00000489018.1:n.1971A>C | ||
| ENST00000498157.1:n.851-10A>C | ||
| NM_001408.2:c.8055-10A>C | NP_001399.1:n.8055-10A>C | |
| XM_005270580.3:c.8055-10A>C | XP_005270637.1:n.8055-10A>C | |
| NM_001408.3:c.8055-10A>C MANE Select | NP_001399.1:n.8055-10A>C |