dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101605720T>G , CM000671.2:g.101605720T>G | GRCh38 |
| NC_000009.11:g.104368002T>G , CM000671.1:g.104368002T>G | GRCh37 |
| NC_000009.10:g.103407823T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.2766+7656A>C MANE Select | ENSP00000355155.3:n.2766+7656A>C | |
| ENST00000361820.3:c.2766+7656A>C | ENSP00000355155.3:n.2766+7656A>C | |
| ENST00000479772.1:n.148-2686A>C | ||
| NM_133445.2:c.2766+7656A>C | NP_597702.2:n.2766+7656A>C | |
| XM_011518212.1:c.2767-2686A>C | XP_011516514.1:n.2767-2686A>C | |
| XR_929711.1:n.3164-2686A>C | ||
| NM_133445.3:c.2766+7656A>C MANE Select | NP_597702.2:n.2766+7656A>C |