Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149486983G>T , CM000685.2:g.149486983G>T | GRCh38 |
| NC_000023.10:g.148568514G>T , CM000685.1:g.148568514G>T | GRCh37 |
| NC_000023.9:g.148376419G>T | NCBI36 |
| NG_011900.3:g.23352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1122C>A MANE Select | ENSP00000339801.6:p.Gly374= | |
| ENST00000651111.1:c.489C>A | ENSP00000498395.1:p.Gly163= | |
| ENST00000340855.10:c.1122C>A | ENSP00000339801.6:p.Gly374= | |
| ENST00000422081.6:c.489C>A | ENSP00000477056.1:p.Gly163= | |
| ENST00000441880.1:n.229C>A | ||
| NM_000202.6:c.1122C>A | NP_000193.1:p.Gly374= | |
| NM_001166550.2:c.852C>A | NP_001160022.1:p.Gly284= | |
| NM_000202.7:c.1122C>A | NP_000193.1:p.Gly374= | |
| NM_001166550.3:c.852C>A | NP_001160022.1:p.Gly284= | |
| NM_000202.8:c.1122C>A MANE Select | NP_000193.1:p.Gly374= | |
| NM_001166550.4:c.852C>A | NP_001160022.1:p.Gly284= |