Linked Data
ClinVar Variation Id:
3218
dbSNP Id:
rs119463989
gnomAD v3:
14-77278849-G-A
gnomAD v4:
14-77278849-G-A
PubMed:
PMID:15894594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278849G>A , CM000676.2:g.77278849G>A | GRCh38 |
| NC_000014.8:g.77745192G>A , CM000676.1:g.77745192G>A | GRCh37 |
| NC_000014.7:g.76814945G>A | NCBI36 |
| NG_008897.1:g.47034C>T , LRG_844:g.47034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.837C>T | ||
| ENST00000556394.2:c.1453C>T | ENSP00000451967.2:p.Arg485Ter | |
| ENST00000682128.1:c.213C>T | ENSP00000506976.1:n.213C>T | |
| ENST00000682247.1:c.1901C>T | ENSP00000507213.1:p.Ser634Leu | |
| ENST00000682395.1:n.2376C>T | ||
| ENST00000682459.1:n.1615C>T | ||
| ENST00000682467.1:c.1892-341C>T | ENSP00000508062.1:n.1892-341C>T | |
| ENST00000682615.1:n.266C>T | ||
| ENST00000682795.1:c.2059C>T | ENSP00000507574.1:p.Arg687Ter | |
| ENST00000682895.1:n.1628C>T | ||
| ENST00000682955.1:n.1486C>T | ||
| ENST00000683095.1:c.318C>T | ENSP00000508040.1:n.318C>T | |
| ENST00000683188.1:c.2173C>T | ||
| ENST00000683380.1:n.1576C>T | ||
| ENST00000683828.1:c.1621C>T | ||
| ENST00000683907.1:c.177C>T | ENSP00000507754.1:p.Phe59= | |
| ENST00000684172.1:c.288C>T | ENSP00000508391.1:n.288C>T | |
| ENST00000684259.1:n.3679C>T | ||
| ENST00000684538.1:n.1291C>T | ||
| ENST00000684549.1:n.1463C>T | ||
| ENST00000261534.9:c.1912C>T MANE Select | ENSP00000261534.4:p.Arg638Ter | |
| ENST00000261534.8:c.1912C>T | ENSP00000261534.4:p.Arg638Ter | |
| ENST00000452340.7:n.2888C>T | ||
| ENST00000554767.5:n.2698C>T | ||
| ENST00000555134.1:n.837C>T | ||
| ENST00000555710.1:c.273C>T | ENSP00000451730.1:n.273C>T | |
| ENST00000556171.1:c.504C>T | ||
| ENST00000556394.1:c.88-341C>T | ||
| ENST00000556446.1:n.213C>T | ||
| ENST00000602717.5:c.127C>T | ENSP00000487704.1:p.Arg43Ter | |
| NM_013382.5:c.1912C>T , LRG_844t1:c.1912C>T | NP_037514.2:p.Arg638Ter | |
| XM_011536675.1:c.2101C>T | XP_011534977.1:p.Arg701Ter | |
| XM_011536676.1:c.1768C>T | XP_011534978.1:p.Arg590Ter | |
| XM_011536677.1:c.1642C>T | XP_011534979.1:p.Arg548Ter | |
| XM_011536679.1:c.1195C>T | XP_011534981.1:p.Arg399Ter | |
| XR_943416.1:n.2165C>T | ||
| XM_011536675.2:c.2101C>T | XP_011534977.1:p.Arg701Ter | |
| XM_011536676.2:c.1768C>T | XP_011534978.1:p.Arg590Ter | |
| XM_011536677.3:c.1642C>T | XP_011534979.1:p.Arg548Ter | |
| XR_001750279.1:n.2198C>T | ||
| XR_001750282.1:n.2851C>T | ||
| XR_943416.3:n.2163C>T | ||
| NM_013382.6:c.1912C>T | NP_037514.2:p.Arg638Ter | |
| NM_013382.7:c.1912C>T MANE Select | NP_037514.2:p.Arg638Ter |