Linked Data
ClinVar Variation Id:
255826
ClinVar RCV Id:
RCV000248113
RCV000369961
RCV000281424
RCV000391588
RCV000315389
RCV000336463
RCV000406240
RCV000945845
dbSNP Id:
rs189358082
ExAC:
6:42672130 G / A
gnomAD v2:
6-42672130-G-A
gnomAD v3:
6-42704392-G-A
gnomAD v4:
6-42704392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704392G>A , CM000668.2:g.42704392G>A | GRCh38 |
| NC_000006.11:g.42672130G>A , CM000668.1:g.42672130G>A | GRCh37 |
| NC_000006.10:g.42780108G>A | NCBI36 |
| NG_009176.1:g.23229C>T | |
| NG_009176.2:g.23229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.801C>T MANE Select | ENSP00000230381.5:p.Val267= | |
| ENST00000230381.6:c.801C>T | ENSP00000230381.5:p.Val267= | |
| NM_000322.4:c.801C>T | NP_000313.2:p.Val267= | |
| XR_427834.2:n.1456C>T | ||
| XR_427834.4:n.1506C>T | ||
| XR_926295.3:n.1688C>T | ||
| NM_000322.5:c.801C>T MANE Select | NP_000313.2:p.Val267= |