Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114796423C>G , CM000671.2:g.114796423C>G | GRCh38 |
| NC_000009.11:g.117558703C>G , CM000671.1:g.117558703C>G | GRCh37 |
| NC_000009.10:g.116598524C>G | NCBI36 |
| NG_011488.2:g.14706G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.211-2855G>C MANE Select | ENSP00000363157.3:n.211-2855G>C | |
| ENST00000374045.4:c.211-2855G>C | ENSP00000363157.3:n.211-2855G>C | |
| NM_005118.3:c.211-2855G>C | NP_005109.2:n.211-2855G>C | |
| NM_005118.4:c.211-2855G>C MANE Select | NP_005109.2:n.211-2855G>C |