Linked Data
ClinVar Variation Id:
371801
ClinVar RCV Id:
RCV000409187
RCV000570971
RCV000456572
RCV000986267
RCV000763775
RCV000782212
RCV002465646
dbSNP Id:
rs202119350
ExAC:
1:17371344 G / A
gnomAD v2:
1-17371344-G-A
gnomAD v3:
1-17044849-G-A
gnomAD v4:
1-17044849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044849G>A , CM000663.2:g.17044849G>A | GRCh38 |
| NC_000001.10:g.17371344G>A , CM000663.1:g.17371344G>A | GRCh37 |
| NC_000001.9:g.17243931G>A | NCBI36 |
| NG_012340.1:g.14322C>T , LRG_316:g.14322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-60C>T | ENSP00000481376.2:n.-60C>T | |
| ENST00000491274.6:c.70C>T | ENSP00000480482.2:p.Arg24Cys | |
| ENST00000375499.8:c.112C>T MANE Select | ENSP00000364649.3:p.Arg38Cys | |
| ENST00000375499.7:c.112C>T | ENSP00000364649.3:p.Arg38Cys | |
| ENST00000463045.2:c.-60C>T | ENSP00000481376.1:n.-60C>T | |
| ENST00000466613.2:n.124C>T | ||
| ENST00000475506.1:n.29C>T | ||
| ENST00000485515.5:n.100C>T | ||
| ENST00000491274.5:c.70C>T | ENSP00000480482.1:p.Arg24Cys | |
| NM_003000.2:c.112C>T , LRG_316t1:c.112C>T | NP_002991.2:p.Arg38Cys | |
| NM_003000.3:c.112C>T MANE Select | NP_002991.2:p.Arg38Cys |