Linked Data
ClinVar Variation Id:
98658
ClinVar RCV Id:
RCV000084960
RCV001086017
RCV001165122
RCV001158410
RCV001165123
RCV001158408
RCV001158409
RCV001165124
RCV001699036
RCV003888453
dbSNP Id:
rs61755775
ExAC:
6:42689824 G / A
gnomAD v2:
6-42689824-G-A
gnomAD v3:
6-42722086-G-A
gnomAD v4:
6-42722086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722086G>A , CM000668.2:g.42722086G>A | GRCh38 |
| NC_000006.11:g.42689824G>A , CM000668.1:g.42689824G>A | GRCh37 |
| NC_000006.10:g.42797802G>A | NCBI36 |
| NG_009176.1:g.5535C>T | |
| NG_009176.2:g.5535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.249C>T MANE Select | ENSP00000230381.5:p.Tyr83= | |
| ENST00000230381.6:c.249C>T | ENSP00000230381.5:p.Tyr83= | |
| NM_000322.4:c.249C>T | NP_000313.2:p.Tyr83= | |
| XR_427834.2:n.904C>T | ||
| XR_926295.1:n.904C>T | ||
| XR_427834.4:n.954C>T | ||
| XR_926295.3:n.954C>T | ||
| NM_000322.5:c.249C>T MANE Select | NP_000313.2:p.Tyr83= |