Linked Data
ClinVar Variation Id:
354016
dbSNP Id:
rs758296965
ExAC:
5:60198345 C / A
gnomAD v2:
5-60198345-C-A
gnomAD v3:
5-60902518-C-A
gnomAD v4:
5-60902518-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60902518C>A , CM000667.2:g.60902518C>A | GRCh38 |
| NC_000005.9:g.60198345C>A , CM000667.1:g.60198345C>A | GRCh37 |
| NC_000005.8:g.60234102C>A | NCBI36 |
| NG_009289.1:g.47561G>T , LRG_466:g.47561G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.553G>T | ENSP00000408344.2:p.Val185Leu | |
| ENST00000647431.2:c.652-10G>T | ENSP00000494726.2:n.652-10G>T | |
| ENST00000647486.2:c.632-10G>T | ENSP00000494466.2:n.632-10G>T | |
| ENST00000675042.2:c.377-10G>T | ENSP00000502082.2:n.377-10G>T | |
| ENST00000675452.2:c.*516-10G>T | ENSP00000506954.1:n.*516-10G>T | |
| ENST00000682217.1:c.551-10G>T | ENSP00000507570.1:n.551-10G>T | |
| ENST00000682246.1:n.607-10G>T | ||
| ENST00000682375.1:c.*381-10G>T | ENSP00000507551.1:n.*381-10G>T | |
| ENST00000683052.1:c.353-10G>T | ENSP00000507072.1:n.353-10G>T | |
| ENST00000683199.1:n.573-10G>T | ||
| ENST00000683216.1:n.820-10G>T | ||
| ENST00000683460.1:c.*381-10G>T | ENSP00000507820.1:n.*381-10G>T | |
| ENST00000684394.1:n.606-10G>T | ||
| ENST00000684453.1:n.601-10G>T | ||
| ENST00000684621.1:n.607-10G>T | ||
| ENST00000265038.10:c.551-10G>T | ENSP00000265038.6:n.551-10G>T | |
| ENST00000643034.1:c.*443-10G>T | ENSP00000496080.1:n.*443-10G>T | |
| ENST00000643708.1:c.*381-10G>T | ENSP00000494199.1:n.*381-10G>T | |
| ENST00000647431.1:c.603-10G>T | ||
| ENST00000647486.1:c.583-10G>T | ||
| ENST00000675042.1:c.377-10G>T | ENSP00000502082.1:n.377-10G>T | |
| ENST00000675378.1:c.551-10G>T | ENSP00000502535.1:n.551-10G>T | |
| ENST00000675452.1:n.800-10G>T | ||
| ENST00000676185.1:c.551-10G>T MANE Select | ENSP00000501614.1:n.551-10G>T | |
| ENST00000265038.9:c.551-10G>T | ENSP00000265038.5:n.551-10G>T | |
| ENST00000381118.7:c.*595-10G>T | ENSP00000370510.3:n.*595-10G>T | |
| ENST00000439176.5:c.377-10G>T | ENSP00000408344.1:n.377-10G>T | |
| ENST00000462279.5:n.396-10G>T | ||
| ENST00000484330.5:n.227-10G>T | ||
| ENST00000495985.5:n.328-10G>T | ||
| NM_000082.3:c.551-10G>T , LRG_466t1:c.551-10G>T | NP_000073.1:n.551-10G>T | |
| NM_001007233.2:c.377-10G>T | NP_001007234.1:n.377-10G>T | |
| NM_001290285.1:c.92-10G>T | NP_001277214.1:n.92-10G>T | |
| NM_000082.4:c.551-10G>T MANE Select | NP_000073.1:n.551-10G>T | |
| NM_001007233.3:c.377-10G>T | NP_001007234.1:n.377-10G>T | |
| NM_001290285.2:c.92-10G>T | NP_001277214.1:n.92-10G>T |