Linked Data
ClinVar Variation Id:
43377
ClinVar RCV Id:
RCV000036286
RCV001129878
RCV001129879
RCV001130591
RCV001130592
RCV001183233
RCV001711100
RCV002054585
dbSNP Id:
rs192630178
ExAC:
19:55665589 G / C
gnomAD v2:
19-55665589-G-C
gnomAD v3:
19-55154221-G-C
gnomAD v4:
19-55154221-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154221G>C , CM000681.2:g.55154221G>C | GRCh38 |
| NC_000019.9:g.55665589G>C , CM000681.1:g.55665589G>C | GRCh37 |
| NC_000019.8:g.60357401G>C | NCBI36 |
| NG_007866.2:g.8512C>G , LRG_432:g.8512C>G | |
| NG_011829.2:g.18C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-15C>G MANE Select | ENSP00000341838.5:n.373-15C>G | |
| ENST00000665070.1:c.406-15C>G | ENSP00000499482.1:n.406-15C>G | |
| ENST00000344887.9:c.373-15C>G | ENSP00000341838.5:n.373-15C>G | |
| ENST00000585806.5:n.372-15C>G | ||
| ENST00000586669.5:n.381-15C>G | ||
| ENST00000588882.1:c.298-15C>G | ENSP00000466729.1:n.298-15C>G | |
| ENST00000589864.1:n.186C>G | ||
| NM_000363.4:c.373-15C>G , LRG_432t1:c.373-15C>G | NP_000354.4:n.373-15C>G | |
| NM_000363.5:c.373-15C>G MANE Select | NP_000354.4:n.373-15C>G |