Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78781850A>G , CM000667.2:g.78781850A>G | GRCh38 |
| NC_000005.9:g.78077673A>G , CM000667.1:g.78077673A>G | GRCh37 |
| NC_000005.8:g.78113429A>G | NCBI36 |
| NG_007089.1:g.209685T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.5:c.1336+2T>C MANE Select | NP_000037.2:n.1336+2T>C |
| ENST00000264914.10:c.1336+2T>C MANE Select | ENSP00000264914.4:n.1336+2T>C |
| NM_000046.3:c.1336+2T>C | NP_000037.2:n.1336+2T>C |
| NM_000046.4:c.1336+2T>C | NP_000037.2:n.1336+2T>C |
| ENST00000264914.8:c.1336+2T>C | ENSP00000264914.4:n.1336+2T>C |
| ENST00000521011.1:n.301+2T>C | |
| XM_011543390.1:c.1336+2T>C | XP_011541692.1:n.1336+2T>C |