Linked Data
ClinVar Variation Id:
350804
ClinVar RCV Id:
RCV000296917
RCV000354116
RCV000404356
RCV002257653
RCV003316499
RCV001821075
RCV002348103
RCV002520304
RCV003137968
RCV004530415
dbSNP Id:
rs11952056
ExAC:
5:1294429 C / G
gnomAD v2:
5-1294429-C-G
gnomAD v3:
5-1294314-C-G
gnomAD v4:
5-1294314-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294314C>G , CM000667.2:g.1294314C>G | GRCh38 |
| NC_000005.9:g.1294429C>G , CM000667.1:g.1294429C>G | GRCh37 |
| NC_000005.8:g.1347429C>G | NCBI36 |
| NG_009265.1:g.5734G>C , LRG_343:g.5734G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.572G>C MANE Select | ENSP00000309572.5:p.Ser191Thr | |
| ENST00000656021.1:c.572G>C | ENSP00000499759.1:p.Ser191Thr | |
| ENST00000310581.9:c.572G>C | ENSP00000309572.5:p.Ser191Thr | |
| ENST00000334602.10:c.572G>C | ENSP00000334346.6:p.Ser191Thr | |
| ENST00000460137.6:c.572G>C | ENSP00000425003.1:p.Ser191Thr | |
| ENST00000508104.2:c.572G>C | ENSP00000426042.2:p.Ser191Thr | |
| NM_001193376.1:c.572G>C | NP_001180305.1:p.Ser191Thr | |
| NM_198253.2:c.572G>C , LRG_343t1:c.572G>C | NP_937983.2:p.Ser191Thr | |
| NR_149162.1:n.630G>C | ||
| NR_149163.1:n.630G>C | ||
| NM_001193376.2:c.572G>C | NP_001180305.1:p.Ser191Thr | |
| NM_198253.3:c.572G>C MANE Select | NP_937983.2:p.Ser191Thr | |
| NR_149162.2:n.651G>C | ||
| NR_149163.2:n.651G>C | ||
| NM_001193376.3:c.572G>C | NP_001180305.1:p.Ser191Thr | |
| NR_149162.3:n.651G>C | ||
| NR_149163.3:n.651G>C |