Linked Data
ClinVar Variation Id:
13167
ClinVar RCV Id:
RCV000014053
RCV000084982
RCV000787664
RCV001250353
RCV001250367
RCV001074392
RCV000787663
RCV001054658
RCV001799605
dbSNP Id:
rs61755793
ExAC:
6:42689558 C / T
gnomAD v2:
6-42689558-C-T
gnomAD v4:
6-42721820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721820C>T , CM000668.2:g.42721820C>T | GRCh38 |
| NC_000006.11:g.42689558C>T , CM000668.1:g.42689558C>T | GRCh37 |
| NC_000006.10:g.42797536C>T | NCBI36 |
| NG_009176.1:g.5801G>A | |
| NG_009176.2:g.5801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.515G>A MANE Select | ENSP00000230381.5:p.Arg172Gln | |
| ENST00000230381.6:c.515G>A | ENSP00000230381.5:p.Arg172Gln | |
| NM_000322.4:c.515G>A | NP_000313.2:p.Arg172Gln | |
| XR_427834.2:n.1170G>A | ||
| XR_926295.1:n.1170G>A | ||
| XR_427834.4:n.1220G>A | ||
| XR_926295.3:n.1220G>A | ||
| NM_000322.5:c.515G>A MANE Select | NP_000313.2:p.Arg172Gln |