Linked Data
ClinVar Variation Id:
356759
ClinVar RCV Id:
RCV000312917
RCV000306908
RCV000366365
RCV000367613
RCV000394601
RCV000404963
RCV001707676
dbSNP Id:
rs3176988
gnomAD v2:
6-42665135-G-T
gnomAD v3:
6-42697397-G-T
gnomAD v4:
6-42697397-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42697397G>T , CM000668.2:g.42697397G>T | GRCh38 |
| NC_000006.11:g.42665135G>T , CM000668.1:g.42665135G>T | GRCh37 |
| NC_000006.10:g.42773113G>T | NCBI36 |
| NG_009176.1:g.30224C>A | |
| NG_009176.2:g.30224C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.*898C>A MANE Select | ENSP00000230381.5:n.*898C>A | |
| ENST00000230381.6:c.*898C>A | ENSP00000230381.5:n.*898C>A | |
| NM_000322.4:c.*898C>A | NP_000313.2:n.*898C>A | |
| XR_926295.3:n.2826C>A | ||
| NM_000322.5:c.*898C>A MANE Select | NP_000313.2:n.*898C>A |