ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55014849G>A , CM000685.2:g.55014849G>A | GRCh38 |
| NC_000023.10:g.55041282G>A , CM000685.1:g.55041282G>A | GRCh37 |
| NC_000023.9:g.55058007G>A | NCBI36 |
| NG_008983.1:g.21216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650242.1:c.1335C>T MANE Select | ENSP00000497236.1:p.Ala445= | |
| ENST00000330807.9:c.1335C>T | ENSP00000332369.5:p.Ala445= | |
| ENST00000335854.8:c.1224C>T | ENSP00000337131.4:p.Ala408= | |
| ENST00000396198.7:c.1296C>T | ENSP00000379501.3:p.Ala432= | |
| ENST00000498636.1:n.626C>T | ||
| NM_000032.4:c.1335C>T | NP_000023.2:p.Ala445= | |
| NM_001037967.3:c.1224C>T | NP_001033056.1:p.Ala408= | |
| NM_001037968.3:c.1296C>T | NP_001033057.1:p.Ala432= | |
| XM_005261995.2:c.1407C>T | XP_005262052.1:p.Ala469= | |
| XM_011530771.1:c.474C>T | XP_011529073.1:p.Ala158= | |
| NM_000032.5:c.1335C>T MANE Select | NP_000023.2:p.Ala445= | |
| NM_001037967.4:c.1224C>T | NP_001033056.1:p.Ala408= | |
| NM_001037968.4:c.1296C>T | NP_001033057.1:p.Ala432= |