Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912437A>T , CM000663.2:g.145912437A>T | GRCh38 |
| NC_000001.10:g.145522643T>A , CM000663.1:g.145522643T>A | GRCh37 |
| NC_000001.9:g.144234000T>A | NCBI36 |
| NG_033000.3:g.11488T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.504T>A MANE Select | ENSP00000358312.3:p.Ser168Arg | |
| ENST00000369306.7:c.504T>A | ENSP00000358312.3:p.Ser168Arg | |
| ENST00000537888.1:c.462T>A | ENSP00000437510.1:p.Ser154Arg | |
| NM_001184795.1:c.462T>A | NP_001171724.1:p.Ser154Arg | |
| NM_003846.2:c.504T>A | NP_003837.1:p.Ser168Arg | |
| NR_073491.1:n.736T>A | ||
| NR_073492.1:n.730T>A | ||
| NR_073493.2:n.952T>A | ||
| NM_003846.3:c.504T>A MANE Select | NP_003837.1:p.Ser168Arg | |
| NR_073491.2:n.529T>A | ||
| NR_073492.2:n.523T>A |