Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576156T>G , CM000663.2:g.154576156T>G | GRCh38 |
| NC_000001.10:g.154548632T>G , CM000663.1:g.154548632T>G | GRCh37 |
| NC_000001.9:g.152815256T>G | NCBI36 |
| NG_008027.1:g.13376T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368476.4:c.*224T>G MANE Select | ENSP00000357461.3:n.*224T>G | |
| ENST00000636034.1:c.1505+228T>G | ENSP00000489703.1:n.1505+228T>G | |
| ENST00000637900.1:c.*224T>G | ENSP00000490474.1:n.*224T>G | |
| ENST00000368476.3:c.*224T>G | ENSP00000357461.3:n.*224T>G | |
| NM_000748.2:c.*224T>G | NP_000739.1:n.*224T>G | |
| XM_017000180.2:c.*224T>G | XP_016855669.1:n.*224T>G | |
| XR_001736952.2:n.1985T>G | ||
| NM_000748.3:c.*224T>G MANE Select | NP_000739.1:n.*224T>G |