dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.38914713T>G , CM000663.2:g.38914713T>G | GRCh38 |
| NC_000001.10:g.39380385T>G , CM000663.1:g.39380385T>G | GRCh37 |
| NC_000001.9:g.39152972T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372990.6:c.395+849A>C MANE Select | ENSP00000362081.1:n.395+849A>C | |
| ENST00000289248.6:c.395+849A>C | ENSP00000289248.2:n.395+849A>C | |
| ENST00000372990.5:c.395+849A>C | ENSP00000362081.1:n.395+849A>C | |
| NM_001304746.1:c.635+849A>C | NP_001291675.1:n.635+849A>C | |
| NM_017821.4:c.395+849A>C | NP_060291.2:n.395+849A>C | |
| XR_001737994.1:n.89+1085T>G | ||
| NM_017821.5:c.395+849A>C MANE Select | NP_060291.2:n.395+849A>C | |
| NM_001304746.2:c.635+849A>C | NP_001291675.1:n.635+849A>C |