Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785492T>A , CM000671.2:g.114785492T>A | GRCh38 |
| NC_000009.11:g.117547772T>A , CM000671.1:g.117547772T>A | GRCh37 |
| NC_000009.10:g.116587593T>A | NCBI36 |
| NG_011488.2:g.25637A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005118.4:c.*4960A>T MANE Select | NP_005109.2:n.*4960A>T |
| ENST00000374045.5:c.*4960A>T MANE Select | ENSP00000363157.3:n.*4960A>T |
| NM_001204344.1:c.5539A>T | NP_001191273.1:n.5539A>T |
| NM_005118.3:c.*4960A>T | NP_005109.2:n.*4960A>T |
| ENST00000374045.4:c.*4960A>T | ENSP00000363157.3:n.*4960A>T |