Linked Data
ClinVar Variation Id:
374986
ClinVar RCV Id:
RCV000415674
dbSNP Id:
rs1057519313
gnomAD v4:
1-44001590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44001590T>C , CM000663.2:g.44001590T>C | GRCh38 |
| NC_000001.10:g.44467262T>C , CM000663.1:g.44467262T>C | GRCh37 |
| NC_000001.9:g.44239849T>C | NCBI36 |
| NG_050929.1:g.34903A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372310.8:c.1000A>G MANE Select | ENSP00000361384.4:p.Ser334Gly | |
| ENST00000673836.1:c.1000A>G | ENSP00000501314.1:p.Ser334Gly | |
| ENST00000357730.6:c.1057A>G | ENSP00000350362.2:p.Ser353Gly | |
| ENST00000360584.6:c.1219A>G | ENSP00000353791.2:p.Ser407Gly | |
| ENST00000372306.7:c.1000A>G | ENSP00000361380.3:p.Ser334Gly | |
| ENST00000372307.7:c.805A>G | ENSP00000361381.3:p.Ser269Gly | |
| ENST00000372310.7:c.1000A>G | ENSP00000361384.3:p.Ser334Gly | |
| ENST00000475075.6:c.667A>G | ENSP00000434460.1:p.Ser223Gly | |
| NM_001024845.2:c.1000A>G | NP_001020016.1:p.Ser334Gly | |
| NM_001261380.1:c.1012A>G | NP_001248309.1:p.Ser338Gly | |
| NM_006934.3:c.1057A>G | NP_008865.2:p.Ser353Gly | |
| NM_201649.3:c.1219A>G | NP_964012.2:p.Ser407Gly | |
| NR_048548.1:n.1264A>G | ||
| NR_048549.1:n.983A>G | ||
| XM_011542017.1:c.1219A>G | XP_011540319.1:p.Ser407Gly | |
| NM_001328626.1:c.667A>G | NP_001315555.1:p.Ser223Gly | |
| NM_001328627.1:c.937A>G | NP_001315556.1:p.Ser313Gly | |
| NM_001328628.1:c.805A>G | NP_001315557.1:p.Ser269Gly | |
| NM_001328629.1:c.1000A>G | NP_001315558.1:p.Ser334Gly | |
| NM_001328630.1:c.667A>G | NP_001315559.1:p.Ser223Gly | |
| XM_011542017.2:c.1219A>G | XP_011540319.1:p.Ser407Gly | |
| XM_017002152.2:c.919A>G | XP_016857641.1:p.Ser307Gly | |
| XM_017002153.2:c.886A>G | XP_016857642.1:p.Ser296Gly | |
| XM_024449295.1:c.805A>G | XP_024305063.1:p.Ser269Gly | |
| NM_001024845.3:c.1000A>G MANE Select | NP_001020016.1:p.Ser334Gly | |
| NM_001261380.2:c.1012A>G | NP_001248309.1:p.Ser338Gly | |
| NM_001328626.2:c.667A>G | NP_001315555.1:p.Ser223Gly | |
| NM_001328630.2:c.667A>G | NP_001315559.1:p.Ser223Gly | |
| NM_006934.4:c.1057A>G | NP_008865.2:p.Ser353Gly | |
| NM_201649.4:c.1219A>G | NP_964012.2:p.Ser407Gly | |
| NR_048548.2:n.1087A>G |