Linked Data
ClinVar Variation Id:
1470694
ClinVar RCV Id:
RCV001964305
dbSNP Id:
rs140986480
gnomAD v3:
X-47627575-C-G
gnomAD v4:
X-47627575-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47627575C>G , CM000685.2:g.47627575C>G | GRCh38 |
| NC_000023.10:g.47486974C>G , CM000685.1:g.47486974C>G | GRCh37 |
| NC_000023.9:g.47371918C>G | NCBI36 |
| NG_009893.1:g.7731G>C , LRG_129:g.7731G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.470G>C MANE Select | ENSP00000380189.3:p.Arg157Pro | |
| ENST00000640573.1:n.708G>C | ||
| ENST00000247153.7:c.470G>C | ENSP00000247153.3:p.Arg157Pro | |
| ENST00000377005.6:c.470G>C | ENSP00000366204.2:p.Arg157Pro | |
| ENST00000396992.7:c.470G>C | ENSP00000380189.3:p.Arg157Pro | |
| ENST00000469388.1:c.65G>C | ENSP00000418258.1:p.Arg22Pro | |
| ENST00000485991.5:n.1767G>C | ||
| NM_001145252.1:c.470G>C | NP_001138724.1:p.Arg157Pro | |
| NM_002621.2:c.470G>C , LRG_129t1:c.470G>C | NP_002612.1:p.Arg157Pro | |
| XM_017029575.1:c.65G>C | XP_016885064.1:p.Arg22Pro | |
| NM_001145252.3:c.470G>C MANE Select | NP_001138724.1:p.Arg157Pro |