Linked Data
ClinVar Variation Id:
11368
ClinVar RCV Id:
RCV000012121
dbSNP Id:
rs128621196
PubMed:
PMID:7880320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101358411T>G , CM000685.2:g.101358411T>G | GRCh38 |
| NC_000023.10:g.100613399T>G , CM000685.1:g.100613399T>G | GRCh37 |
| NC_000023.9:g.100500055T>G | NCBI36 |
| NG_009616.1:g.32814A>C , LRG_128:g.32814A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464006.2:n.781A>C | ||
| ENST00000478995.2:n.1161A>C | ||
| ENST00000488970.2:n.1159A>C | ||
| ENST00000695614.1:c.1001A>C | ENSP00000512053.1:p.Tyr334Ser | |
| ENST00000695615.1:c.1001A>C | ENSP00000512054.1:p.Tyr334Ser | |
| ENST00000695616.1:c.*846A>C | ENSP00000512055.1:n.*846A>C | |
| ENST00000695617.1:c.998A>C | ENSP00000512056.1:p.Tyr333Ser | |
| ENST00000695618.1:c.*750A>C | ENSP00000512058.1:n.*750A>C | |
| ENST00000695619.1:c.*711A>C | ENSP00000512059.1:n.*711A>C | |
| ENST00000695620.1:c.*846A>C | ENSP00000512060.1:n.*846A>C | |
| ENST00000695621.1:c.1001A>C | ENSP00000512061.1:p.Tyr334Ser | |
| ENST00000695622.1:c.938A>C | ENSP00000512062.1:p.Tyr313Ser | |
| ENST00000695623.1:c.995A>C | ENSP00000512063.1:p.Tyr332Ser | |
| ENST00000695624.1:n.306A>C | ||
| ENST00000695625.1:c.1001A>C | ENSP00000512064.1:p.Tyr334Ser | |
| ENST00000695626.1:c.14A>C | ENSP00000512065.1:p.Tyr5Ser | |
| ENST00000695627.1:c.14A>C | ENSP00000512066.1:p.Tyr5Ser | |
| ENST00000695628.1:c.14A>C | ENSP00000512067.1:p.Tyr5Ser | |
| ENST00000695629.1:c.14A>C | ENSP00000512068.1:p.Tyr5Ser | |
| ENST00000695630.1:c.10A>C | ||
| ENST00000695631.1:c.13A>C | ||
| ENST00000695632.1:n.18A>C | ||
| ENST00000703407.1:c.1001A>C | ENSP00000512057.1:p.Tyr334Ser | |
| ENST00000308731.8:c.1001A>C MANE Select | ENSP00000308176.8:p.Tyr334Ser | |
| ENST00000308731.7:c.1001A>C | ENSP00000308176.7:p.Tyr334Ser | |
| ENST00000372880.5:c.1001A>C | ENSP00000361971.1:p.Tyr334Ser | |
| ENST00000618050.4:c.1001A>C | ENSP00000479125.1:p.Tyr334Ser | |
| ENST00000621635.4:c.1103A>C | ENSP00000483570.1:p.Tyr368Ser | |
| NM_000061.2:c.1001A>C , LRG_128t1:c.1001A>C | NP_000052.1:p.Tyr334Ser | |
| NM_001287344.1:c.1103A>C | NP_001274273.1:p.Tyr368Ser | |
| NM_001287345.1:c.1001A>C | NP_001274274.1:p.Tyr334Ser | |
| NM_000061.3:c.1001A>C MANE Select | NP_000052.1:p.Tyr334Ser | |
| NM_001287344.2:c.1103A>C | NP_001274273.1:p.Tyr368Ser | |
| NM_001287345.2:c.1001A>C | NP_001274274.1:p.Tyr334Ser |