Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114802595T>C , CM000671.2:g.114802595T>C | GRCh38 |
| NC_000009.11:g.117564875T>C , CM000671.1:g.117564875T>C | GRCh37 |
| NC_000009.10:g.116604696T>C | NCBI36 |
| NG_011488.2:g.8534A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005118.4:c.210+3208A>G MANE Select | NP_005109.2:n.210+3208A>G |
| ENST00000374045.5:c.210+3208A>G MANE Select | ENSP00000363157.3:n.210+3208A>G |
| NM_005118.3:c.210+3208A>G | NP_005109.2:n.210+3208A>G |
| ENST00000374045.4:c.210+3208A>G | ENSP00000363157.3:n.210+3208A>G |