ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912439T>G , CM000663.2:g.145912439T>G | GRCh38 |
| NC_000001.10:g.145522641A>C , CM000663.1:g.145522641A>C | GRCh37 |
| NC_000001.9:g.144233998A>C | NCBI36 |
| NG_033000.3:g.11486A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.502A>C MANE Select | ENSP00000358312.3:p.Ser168Arg | |
| ENST00000369306.7:c.502A>C | ENSP00000358312.3:p.Ser168Arg | |
| ENST00000537888.1:c.460A>C | ENSP00000437510.1:p.Ser154Arg | |
| NM_001184795.1:c.460A>C | NP_001171724.1:p.Ser154Arg | |
| NM_003846.2:c.502A>C | NP_003837.1:p.Ser168Arg | |
| NR_073491.1:n.734A>C | ||
| NR_073492.1:n.728A>C | ||
| NR_073493.2:n.950A>C | ||
| NM_003846.3:c.502A>C MANE Select | NP_003837.1:p.Ser168Arg | |
| NR_073491.2:n.527A>C | ||
| NR_073492.2:n.521A>C |