gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169178001G>T , CM000664.2:g.169178001G>T | GRCh38 |
| NC_000002.11:g.170034511G>T , CM000664.1:g.170034511G>T | GRCh37 |
| NC_000002.10:g.169742757G>T | NCBI36 |
| NG_012634.1:g.189612C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.10195C>A MANE Select | ENSP00000496870.1:p.Arg3399= | |
| ENST00000649153.1:c.1095C>A | ||
| ENST00000263816.7:c.10195C>A | ENSP00000263816.3:p.Arg3399= | |
| ENST00000461418.1:n.396C>A | ||
| NM_004525.2:c.10195C>A | NP_004516.2:p.Arg3399= | |
| XM_011511183.1:c.10195C>A | XP_011509485.1:p.Arg3399= | |
| XM_011511184.1:c.7906C>A | XP_011509486.1:p.Arg2636= | |
| NM_004525.3:c.10195C>A MANE Select | NP_004516.2:p.Arg3399= | |
| XM_011511183.3:c.10195C>A | XP_011509485.1:p.Arg3399= | |
| XM_011511184.2:c.7906C>A | XP_011509486.1:p.Arg2636= |