Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82081076T>G , CM000679.2:g.82081076T>G | GRCh38 |
| NC_000017.10:g.80038952T>G , CM000679.1:g.80038952T>G | GRCh37 |
| NC_000017.9:g.77632241T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004104.5:c.6595+88A>C MANE Select | NP_004095.4:n.6595+88A>C |
| ENST00000306749.4:c.6595+88A>C MANE Select | ENSP00000304592.2:n.6595+88A>C |
| NM_004104.4:c.6595+88A>C | NP_004095.4:n.6595+88A>C |
| ENST00000306749.3:c.6595+88A>C | ENSP00000304592.2:n.6595+88A>C |
| ENST00000634990.1:c.6589+88A>C | ENSP00000488964.1:n.6589+88A>C |
| XM_011523538.1:c.6595+88A>C | XP_011521840.1:n.6595+88A>C |
| XM_011523538.2:c.6595+88A>C | XP_011521840.1:n.6595+88A>C |