ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211479291C>A , CM000663.2:g.211479291C>A | GRCh38 |
| NC_000001.10:g.211652633C>A , CM000663.1:g.211652633C>A | GRCh37 |
| NC_000001.9:g.209719256C>A | NCBI36 |
| NG_013042.1:g.18627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.333G>T | ENSP00000355969.4:p.Val111= | |
| ENST00000680073.1:c.333G>T MANE Select | ENSP00000505312.1:p.Val111= | |
| ENST00000367002.4:c.333G>T | ENSP00000355969.4:p.Val111= | |
| ENST00000484910.1:n.301G>T | ||
| NM_001164688.1:c.333G>T | NP_001158160.1:p.Val111= | |
| NM_183059.2:c.333G>T | NP_898882.1:p.Val111= | |
| XM_011509479.1:c.333G>T | XP_011507781.1:p.Val111= | |
| XM_017001151.1:c.369G>T | XP_016856640.1:p.Val123= | |
| NM_183059.3:c.333G>T | NP_898882.1:p.Val111= | |
| NM_001164688.2:c.333G>T MANE Select | NP_001158160.1:p.Val111= |