Linked Data
ClinVar Variation Id:
8953
ClinVar RCV Id:
RCV000009510
RCV000185836
RCV000202499
RCV000194764
RCV000515252
RCV000662284
RCV000576571
RCV000624845
RCV001004157
RCV001813968
RCV003137507
dbSNP Id:
rs74315294
ExAC:
1:53668099 C / T
gnomAD v2:
1-53668099-C-T
gnomAD v3:
1-53202427-C-T
gnomAD v4:
1-53202427-C-T
PubMed:
PMID:736528
PMID:2762996
PMID:8358442
PMID:8651281
PMID:8786066
PMID:9309694
PMID:10090476
PMID:10398215
PMID:12707442
PMID:15363638
PMID:15642848
PMID:16225172
PMID:16996287
PMID:18550408
PMID:20301431
PMID:20810031
PMID:21913903
PMID:23184072
PMID:23757202
PMID:23891399
PMID:24398345
PMID:24602495
PMID:27034144
PMID:27629963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53202427C>T , CM000663.2:g.53202427C>T | GRCh38 |
| NC_000001.10:g.53668099C>T , CM000663.1:g.53668099C>T | GRCh37 |
| NC_000001.9:g.53440687C>T | NCBI36 |
| NG_008035.1:g.10999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.338C>T MANE Select | ENSP00000360541.3:p.Ser113Leu | |
| ENST00000468572.2:n.423C>T | ||
| ENST00000635862.1:c.338C>T | ENSP00000490867.1:p.Ser113Leu | |
| ENST00000635888.1:c.*324C>T | ENSP00000490042.1:n.*324C>T | |
| ENST00000636239.1:c.233+1628C>T | ENSP00000490066.1:n.233+1628C>T | |
| ENST00000636673.1:n.2651C>T | ||
| ENST00000636867.1:c.338C>T | ENSP00000489631.1:p.Ser113Leu | |
| ENST00000636891.1:c.338C>T | ENSP00000490399.1:p.Ser113Leu | |
| ENST00000636935.1:c.338C>T | ENSP00000489757.1:p.Ser113Leu | |
| ENST00000637252.1:c.338C>T | ENSP00000490492.1:p.Ser113Leu | |
| ENST00000638135.1:c.152+5332C>T | ENSP00000489756.1:n.152+5332C>T | |
| ENST00000371486.3:c.338C>T | ENSP00000360541.3:p.Ser113Leu | |
| ENST00000468572.1:n.423C>T | ||
| NM_000098.2:c.338C>T | NP_000089.1:p.Ser113Leu | |
| XM_005270484.1:c.338C>T | XP_005270541.1:p.Ser113Leu | |
| NM_001330589.1:c.338C>T | NP_001317518.1:p.Ser113Leu | |
| NM_000098.3:c.338C>T MANE Select | NP_000089.1:p.Ser113Leu | |
| NM_001330589.2:c.338C>T | NP_001317518.1:p.Ser113Leu |