Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785462T>C , CM000671.2:g.114785462T>C | GRCh38 |
| NC_000009.11:g.117547742T>C , CM000671.1:g.117547742T>C | GRCh37 |
| NC_000009.10:g.116587563T>C | NCBI36 |
| NG_011488.2:g.25667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.*4990A>G MANE Select | ENSP00000363157.3:n.*4990A>G | |
| ENST00000374045.4:c.*4990A>G | ENSP00000363157.3:n.*4990A>G | |
| NM_001204344.1:c.5569A>G | NP_001191273.1:n.5569A>G | |
| NM_005118.3:c.*4990A>G | NP_005109.2:n.*4990A>G | |
| NM_005118.4:c.*4990A>G MANE Select | NP_005109.2:n.*4990A>G |