Linked Data
ClinVar Variation Id:
98702
ClinVar RCV Id:
RCV000085014
RCV001164886
RCV001164887
RCV001439459
RCV001530323
RCV001159969
RCV001164883
RCV001164884
RCV001164885
dbSNP Id:
rs61755813
ExAC:
6:42672223 G / A
gnomAD v2:
6-42672223-G-A
gnomAD v3:
6-42704485-G-A
gnomAD v4:
6-42704485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704485G>A , CM000668.2:g.42704485G>A | GRCh38 |
| NC_000006.11:g.42672223G>A , CM000668.1:g.42672223G>A | GRCh37 |
| NC_000006.10:g.42780201G>A | NCBI36 |
| NG_009176.1:g.23136C>T | |
| NG_009176.2:g.23136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.708C>T MANE Select | ENSP00000230381.5:p.Tyr236= | |
| ENST00000230381.6:c.708C>T | ENSP00000230381.5:p.Tyr236= | |
| NM_000322.4:c.708C>T | NP_000313.2:p.Tyr236= | |
| XR_427834.2:n.1363C>T | ||
| XR_427834.4:n.1413C>T | ||
| XR_926295.3:n.1595C>T | ||
| NM_000322.5:c.708C>T MANE Select | NP_000313.2:p.Tyr236= |