Linked Data
ClinVar Variation Id:
381621
ClinVar RCV Id:
RCV000760113
RCV000765104
RCV000852047
RCV003147455
RCV002264696
RCV003323534
RCV004551444
dbSNP Id:
rs141649383
ExAC:
12:6167119 G / C
gnomAD v2:
12-6167119-G-C
gnomAD v3:
12-6057953-G-C
gnomAD v4:
12-6057953-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057953G>C , CM000674.2:g.6057953G>C | GRCh38 |
| NC_000012.11:g.6167119G>C , CM000674.1:g.6167119G>C | GRCh37 |
| NC_000012.10:g.6037380G>C | NCBI36 |
| NG_009072.1:g.71718C>G | |
| NG_009072.2:g.71718C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1625C>G MANE Select | ENSP00000261405.5:p.Ala542Gly | |
| ENST00000261405.9:c.1625C>G | ENSP00000261405.5:p.Ala542Gly | |
| ENST00000538635.5:n.420+52562C>G | ||
| NM_000552.3:c.1625C>G | NP_000543.2:p.Ala542Gly | |
| NM_000552.4:c.1625C>G | NP_000543.2:p.Ala542Gly | |
| NM_000552.5:c.1625C>G MANE Select | NP_000543.3:p.Ala542Gly |