Linked Data
ClinVar Variation Id:
538730
ClinVar RCV Id:
RCV000648174
dbSNP Id:
rs147871747
gnomAD v2:
14-77769186-G-T
gnomAD v4:
14-77302843-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77302843G>T , CM000676.2:g.77302843G>T | GRCh38 |
| NC_000014.8:g.77769186G>T , CM000676.1:g.77769186G>T | GRCh37 |
| NC_000014.7:g.76838939G>T | NCBI36 |
| NG_008897.1:g.23040C>A , LRG_844:g.23040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.110-1594C>A | ENSP00000508202.1:n.110-1594C>A | |
| ENST00000556394.2:c.357+1849C>A | ENSP00000451967.2:n.357+1849C>A | |
| ENST00000556880.6:n.672C>A | ||
| ENST00000682247.1:c.648C>A | ENSP00000507213.1:p.Cys216Ter | |
| ENST00000682377.1:c.228C>A | ENSP00000507494.1:p.Cys76Ter | |
| ENST00000682382.1:c.495+1849C>A | ||
| ENST00000682395.1:n.377C>A | ||
| ENST00000682459.1:n.312C>A | ||
| ENST00000682467.1:c.648C>A | ENSP00000508062.1:p.Cys216Ter | |
| ENST00000682795.1:c.648C>A | ENSP00000507574.1:p.Cys216Ter | |
| ENST00000682895.1:n.364C>A | ||
| ENST00000682955.1:n.211+1849C>A | ||
| ENST00000683188.1:c.342+1849C>A | ||
| ENST00000683300.1:c.109+1849C>A | ENSP00000507630.1:n.109+1849C>A | |
| ENST00000683328.1:c.109+1849C>A | ENSP00000508096.1:n.109+1849C>A | |
| ENST00000683380.1:n.312C>A | ||
| ENST00000683551.1:c.101C>A | ||
| ENST00000683828.1:c.517C>A | ||
| ENST00000684259.1:n.499C>A | ||
| ENST00000684549.1:n.367+1849C>A | ||
| ENST00000261534.9:c.648C>A MANE Select | ENSP00000261534.4:p.Cys216Ter | |
| ENST00000261534.8:c.648C>A | ENSP00000261534.4:p.Cys216Ter | |
| ENST00000452340.7:n.671C>A | ||
| ENST00000553863.5:n.312C>A | ||
| ENST00000554948.1:c.375C>A | ENSP00000452060.1:p.Cys125Ter | |
| ENST00000555675.5:n.364C>A | ||
| ENST00000556326.5:c.*314C>A | ENSP00000450630.1:n.*314C>A | |
| ENST00000556880.5:n.672C>A | ||
| ENST00000557289.1:c.55+1849C>A | ENSP00000451115.1:n.55+1849C>A | |
| NM_013382.5:c.648C>A , LRG_844t1:c.648C>A | NP_037514.2:p.Cys216Ter | |
| XM_011536675.1:c.648C>A | XP_011534977.1:p.Cys216Ter | |
| XM_011536676.1:c.315C>A | XP_011534978.1:p.Cys105Ter | |
| XM_011536677.1:c.547+1849C>A | XP_011534979.1:n.547+1849C>A | |
| XM_011536678.1:c.648C>A | XP_011534980.1:p.Cys216Ter | |
| XM_011536679.1:c.-91+1849C>A | XP_011534981.1:n.-91+1849C>A | |
| XM_011536680.1:c.648C>A | XP_011534982.1:p.Cys216Ter | |
| XR_943416.1:n.851C>A | ||
| XM_011536675.2:c.648C>A | XP_011534977.1:p.Cys216Ter | |
| XM_011536676.2:c.315C>A | XP_011534978.1:p.Cys105Ter | |
| XM_011536677.3:c.547+1849C>A | XP_011534979.1:n.547+1849C>A | |
| XR_001750279.1:n.848C>A | ||
| XR_001750282.1:n.852C>A | ||
| XR_943416.3:n.849C>A | ||
| NM_013382.6:c.648C>A | NP_037514.2:p.Cys216Ter | |
| NM_013382.7:c.648C>A MANE Select | NP_037514.2:p.Cys216Ter |