dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74002397T>G , CM000673.2:g.74002397T>G | GRCh38 |
| NC_000011.9:g.73713442T>G , CM000673.1:g.73713442T>G | GRCh37 |
| NC_000011.8:g.73391090T>G | NCBI36 |
| NG_011515.1:g.11841A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.825-871A>C MANE Select | ENSP00000323740.4:n.825-871A>C | |
| ENST00000314032.8:c.825-871A>C | ENSP00000323740.4:n.825-871A>C | |
| NM_003356.3:c.825-871A>C | NP_003347.1:n.825-871A>C | |
| XR_950298.1:n.1768+6363T>G | ||
| NM_003356.4:c.825-871A>C MANE Select | NP_003347.1:n.825-871A>C |