Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21037162G>A , CM000664.2:g.21037162G>A | GRCh38 |
| NC_000002.11:g.21260034G>A , CM000664.1:g.21260034G>A | GRCh37 |
| NC_000002.10:g.21113539G>A | NCBI36 |
| NG_011793.1:g.11912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.477C>T | ENSP00000501110.2:p.Gly159= | |
| ENST00000673882.2:c.477C>T | ENSP00000501253.2:p.Gly159= | |
| ENST00000673739.1:c.345C>T | ENSP00000501110.1:p.Gly115= | |
| ENST00000673882.1:c.345C>T | ENSP00000501253.1:p.Gly115= | |
| ENST00000233242.5:c.631C>T MANE Select | ENSP00000233242.1:p.Gln211Ter | |
| ENST00000399256.4:c.631C>T | ENSP00000382200.4:p.Gln211Ter | |
| ENST00000616098.4:c.631C>T | ENSP00000477990.1:p.Gln211Ter | |
| NM_000384.2:c.631C>T | NP_000375.2:p.Gln211Ter | |
| XM_011532809.1:c.631C>T | XP_011531111.1:p.Gln211Ter | |
| NM_000384.3:c.631C>T MANE Select | NP_000375.3:p.Gln211Ter |