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