Linked Data
ClinVar Variation Id:
252172
ClinVar RCV Id:
RCV000237663
dbSNP Id:
rs749085746
ExAC:
19:11231075 A / C
gnomAD v2:
19-11231075-A-C
gnomAD v4:
19-11120399-A-C
PubMed:
PMID:11933210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120399A>C , CM000681.2:g.11120399A>C | GRCh38 |
| NC_000019.9:g.11231075A>C , CM000681.1:g.11231075A>C | GRCh37 |
| NC_000019.8:g.11092075A>C | NCBI36 |
| NG_009060.1:g.36019A>C , LRG_274:g.36019A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2275A>C | ENSP00000252444.6:p.Ser759Arg | |
| ENST00000559340.2:c.*86A>C | ENSP00000453696.2:n.*86A>C | |
| ENST00000560467.2:c.1897A>C | ENSP00000453513.2:p.Ser633Arg | |
| ENST00000558518.6:c.2017A>C MANE Select | ENSP00000454071.1:p.Ser673Arg | |
| ENST00000252444.9:c.2271A>C | ||
| ENST00000455727.6:c.1513A>C | ENSP00000397829.2:p.Ser505Arg | |
| ENST00000535915.5:c.1894A>C | ENSP00000440520.1:p.Ser632Arg | |
| ENST00000545707.5:c.1606+166A>C | ENSP00000437639.1:n.1606+166A>C | |
| ENST00000557933.5:c.2017A>C | ENSP00000453557.1:p.Ser673Arg | |
| ENST00000558013.5:c.2017A>C | ENSP00000453346.1:p.Ser673Arg | |
| ENST00000558518.5:c.2017A>C | ENSP00000454071.1:p.Ser673Arg | |
| ENST00000559340.1:c.598A>C | ||
| NM_000527.4:c.2017A>C , LRG_274t1:c.2017A>C | NP_000518.1:p.Ser673Arg | |
| NM_001195798.1:c.2017A>C | NP_001182727.1:p.Ser673Arg | |
| NM_001195799.1:c.1894A>C | NP_001182728.1:p.Ser632Arg | |
| NM_001195800.1:c.1513A>C | NP_001182729.1:p.Ser505Arg | |
| NM_001195803.1:c.1606+166A>C | NP_001182732.1:n.1606+166A>C | |
| XM_011528010.1:c.2017A>C | XP_011526312.1:p.Ser673Arg | |
| XM_011528011.1:c.1636A>C | XP_011526313.1:p.Ser546Arg | |
| XR_244074.2:n.2027A>C | ||
| XM_011528010.2:c.2017A>C | XP_011526312.1:p.Ser673Arg | |
| XR_001753685.2:n.2134A>C | ||
| XR_001753686.2:n.1994A>C | ||
| NM_000527.5:c.2017A>C MANE Select | NP_000518.1:p.Ser673Arg | |
| NM_001195798.2:c.2017A>C | NP_001182727.1:p.Ser673Arg | |
| NM_001195799.2:c.1894A>C | NP_001182728.1:p.Ser632Arg | |
| NM_001195800.2:c.1513A>C | NP_001182729.1:p.Ser505Arg | |
| NM_001195803.2:c.1606+166A>C | NP_001182732.1:n.1606+166A>C |