Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008235C>G , CM000672.2:g.72008235C>G | GRCh38 |
| NC_000010.10:g.73767993C>G , CM000672.1:g.73767993C>G | GRCh37 |
| NC_000010.9:g.73437999C>G | NCBI36 |
| NG_012635.1:g.48874C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1204C>G MANE Select | ENSP00000362207.4:p.Gln402Glu | |
| ENST00000373115.4:c.1204C>G | ENSP00000362207.4:p.Gln402Glu | |
| NM_004273.4:c.1204C>G | NP_004264.2:p.Gln402Glu | |
| XM_006718075.2:c.1204C>G | XP_006718138.1:p.Gln402Glu | |
| XM_011540369.1:c.1204C>G | XP_011538671.1:p.Gln402Glu | |
| XM_006718075.4:c.1204C>G | XP_006718138.1:p.Gln402Glu | |
| XM_011540369.2:c.1204C>G | XP_011538671.1:p.Gln402Glu | |
| NM_004273.5:c.1204C>G MANE Select | NP_004264.2:p.Gln402Glu |