Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785444A>G , CM000671.2:g.114785444A>G | GRCh38 |
| NC_000009.11:g.117547724A>G , CM000671.1:g.117547724A>G | GRCh37 |
| NC_000009.10:g.116587545A>G | NCBI36 |
| NG_011488.2:g.25685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.*5008T>C MANE Select | ENSP00000363157.3:n.*5008T>C | |
| ENST00000374045.4:c.*5008T>C | ENSP00000363157.3:n.*5008T>C | |
| NM_001204344.1:c.5587T>C | NP_001191273.1:n.5587T>C | |
| NM_005118.3:c.*5008T>C | NP_005109.2:n.*5008T>C | |
| NM_005118.4:c.*5008T>C MANE Select | NP_005109.2:n.*5008T>C |