Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183207879A>C , CM000663.2:g.183207879A>C | GRCh38 |
| NC_000001.10:g.183177014A>C , CM000663.1:g.183177014A>C | GRCh37 |
| NC_000001.9:g.181443637A>C | NCBI36 |
| NG_007079.2:g.26616A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.80-2A>C MANE Select | NP_005553.2:n.80-2A>C |
| ENST00000264144.5:c.80-2A>C MANE Select | ENSP00000264144.4:n.80-2A>C |
| NM_005562.2:c.80-2A>C | NP_005553.2:n.80-2A>C |
| NM_018891.2:c.80-2A>C | NP_061486.2:n.80-2A>C |
| NM_018891.3:c.80-2A>C | NP_061486.2:n.80-2A>C |
| ENST00000264144.4:c.80-2A>C | ENSP00000264144.4:n.80-2A>C |
| ENST00000493293.5:c.80-2A>C | ENSP00000432063.1:n.80-2A>C |
| XM_017001273.2:c.80-2A>C | XP_016856762.1:n.80-2A>C |