Linked Data
ClinVar Variation Id:
95535
dbSNP Id:
rs368817785
ExAC:
14:77751891 G / A
gnomAD v2:
14-77751891-G-A
gnomAD v3:
14-77285548-G-A
gnomAD v4:
14-77285548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285548G>A , CM000676.2:g.77285548G>A | GRCh38 |
| NC_000014.8:g.77751891G>A , CM000676.1:g.77751891G>A | GRCh37 |
| NC_000014.7:g.76821644G>A | NCBI36 |
| NG_008897.1:g.40335C>T , LRG_844:g.40335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.56C>T | ||
| ENST00000556394.2:c.958C>T | ENSP00000451967.2:p.Arg320Ter | |
| ENST00000682247.1:c.1417C>T | ENSP00000507213.1:p.Arg473Ter | |
| ENST00000682382.1:c.989C>T | ||
| ENST00000682395.1:n.1595C>T | ||
| ENST00000682459.1:n.1120C>T | ||
| ENST00000682467.1:c.1417C>T | ENSP00000508062.1:p.Arg473Ter | |
| ENST00000682560.1:c.85C>T | ENSP00000507033.1:p.Arg29Ter | |
| ENST00000682795.1:c.1417C>T | ENSP00000507574.1:p.Arg473Ter | |
| ENST00000682895.1:n.1133C>T | ||
| ENST00000682955.1:n.705C>T | ||
| ENST00000683188.1:c.1392C>T | ||
| ENST00000683380.1:n.1081C>T | ||
| ENST00000683828.1:c.1126C>T | ||
| ENST00000684259.1:n.1268C>T | ||
| ENST00000684444.1:c.168C>T | ||
| ENST00000684549.1:n.968C>T | ||
| ENST00000261534.9:c.1417C>T MANE Select | ENSP00000261534.4:p.Arg473Ter | |
| ENST00000261534.8:c.1417C>T | ENSP00000261534.4:p.Arg473Ter | |
| ENST00000452340.7:n.1440C>T | ||
| ENST00000553880.5:n.288C>T | ||
| ENST00000554767.5:n.2203C>T | ||
| ENST00000554884.5:n.409C>T | ||
| ENST00000555134.1:n.56C>T | ||
| ENST00000557675.5:n.507C>T | ||
| NM_013382.5:c.1417C>T , LRG_844t1:c.1417C>T | NP_037514.2:p.Arg473Ter | |
| XM_011536675.1:c.1417C>T | XP_011534977.1:p.Arg473Ter | |
| XM_011536676.1:c.1084C>T | XP_011534978.1:p.Arg362Ter | |
| XM_011536677.1:c.958C>T | XP_011534979.1:p.Arg320Ter | |
| XM_011536678.1:c.1417C>T | XP_011534980.1:p.Arg473Ter | |
| XM_011536679.1:c.511C>T | XP_011534981.1:p.Arg171Ter | |
| XR_943416.1:n.1620C>T | ||
| XM_011536675.2:c.1417C>T | XP_011534977.1:p.Arg473Ter | |
| XM_011536676.2:c.1084C>T | XP_011534978.1:p.Arg362Ter | |
| XM_011536677.3:c.958C>T | XP_011534979.1:p.Arg320Ter | |
| XR_001750279.1:n.1617C>T | ||
| XR_001750282.1:n.2070C>T | ||
| XR_943416.3:n.1618C>T | ||
| NM_013382.6:c.1417C>T | NP_037514.2:p.Arg473Ter | |
| NM_013382.7:c.1417C>T MANE Select | NP_037514.2:p.Arg473Ter |