Linked Data
ClinVar Variation Id:
41895
ClinVar RCV Id:
RCV000034821
RCV001040357
RCV001073952
RCV001270292
RCV002272037
RCV002477062
RCV003224859
dbSNP Id:
rs201153410
ExAC:
2:234237188 C / T
gnomAD v2:
2-234237188-C-T
gnomAD v3:
2-233328542-C-T
gnomAD v4:
2-233328542-C-T
PubMed:
PMID:9452120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233328542C>T , CM000664.2:g.233328542C>T | GRCh38 |
| NC_000002.11:g.234237188C>T , CM000664.1:g.234237188C>T | GRCh37 |
| NC_000002.10:g.233901927C>T | NCBI36 |
| NG_009116.1:g.25880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.577C>T MANE Select | ENSP00000386444.1:p.Arg193Ter | |
| ENST00000409110.5:c.577C>T | ENSP00000386444.1:p.Arg193Ter | |
| ENST00000412969.6:n.1797C>T | ||
| ENST00000469222.5:n.594C>T | ||
| ENST00000471884.5:n.2028C>T | ||
| ENST00000474206.1:n.414C>T | ||
| ENST00000476500.5:n.1898C>T | ||
| NM_000541.4:c.577C>T | NP_000532.2:p.Arg193Ter | |
| XM_011511589.1:c.577C>T | XP_011509891.1:p.Arg193Ter | |
| XM_011511590.1:c.577C>T | XP_011509892.1:p.Arg193Ter | |
| XM_011511591.1:c.577C>T | XP_011509893.1:p.Arg193Ter | |
| XM_011511592.1:c.421C>T | XP_011509894.1:p.Arg141Ter | |
| XM_011511593.1:c.277C>T | XP_011509895.1:p.Arg93Ter | |
| XM_011511594.1:c.205C>T | XP_011509896.1:p.Arg69Ter | |
| XM_011511595.1:c.577C>T | XP_011509897.1:p.Arg193Ter | |
| XM_011511596.1:c.175C>T | XP_011509898.1:p.Arg59Ter | |
| XM_011511597.1:c.175C>T | XP_011509899.1:p.Arg59Ter | |
| XR_922978.1:n.773C>T | ||
| XR_922979.1:n.773C>T | ||
| XR_922980.1:n.872C>T | ||
| XM_011511593.3:c.277C>T | XP_011509895.1:p.Arg93Ter | |
| XM_017004641.1:c.577C>T | XP_016860130.1:p.Arg193Ter | |
| XM_017004642.1:c.577C>T | XP_016860131.1:p.Arg193Ter | |
| XM_017004643.1:c.577C>T | XP_016860132.1:p.Arg193Ter | |
| XM_024453036.1:c.175C>T | XP_024308804.1:p.Arg59Ter | |
| XR_001738882.1:n.654C>T | ||
| XR_922980.2:n.872C>T | ||
| NM_000541.5:c.577C>T MANE Select | NP_000532.2:p.Arg193Ter |