Linked Data
ClinVar Variation Id:
356764
ClinVar RCV Id:
RCV000269988
RCV000292134
RCV000324032
RCV000327439
RCV000380914
RCV000384226
RCV001692030
dbSNP Id:
rs432753
gnomAD v2:
6-42665490-C-T
gnomAD v3:
6-42697752-C-T
gnomAD v4:
6-42697752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42697752C>T , CM000668.2:g.42697752C>T | GRCh38 |
| NC_000006.11:g.42665490C>T , CM000668.1:g.42665490C>T | GRCh37 |
| NC_000006.10:g.42773468C>T | NCBI36 |
| NG_009176.1:g.29869G>A | |
| NG_009176.2:g.29869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.*543G>A MANE Select | ENSP00000230381.5:n.*543G>A | |
| ENST00000230381.6:c.*543G>A | ENSP00000230381.5:n.*543G>A | |
| NM_000322.4:c.*543G>A | NP_000313.2:n.*543G>A | |
| XR_926295.3:n.2471G>A | ||
| NM_000322.5:c.*543G>A MANE Select | NP_000313.2:n.*543G>A |