Linked Data
ClinVar Variation Id:
445827
dbSNP Id:
rs34139502
ExAC:
14:50623760 G / T
gnomAD v2:
14-50623760-G-T
gnomAD v3:
14-50157042-G-T
gnomAD v4:
14-50157042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50157042G>T , CM000676.2:g.50157042G>T | GRCh38 |
| NC_000014.8:g.50623760G>T , CM000676.1:g.50623760G>T | GRCh37 |
| NC_000014.7:g.49693510G>T | NCBI36 |
| NG_051073.1:g.79652C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2014C>A MANE Select | ENSP00000216373.5:p.Leu672Ile | |
| ENST00000216373.9:c.2014C>A | ENSP00000216373.5:p.Leu672Ile | |
| ENST00000543680.5:c.1915C>A | ENSP00000445328.1:p.Leu639Ile | |
| ENST00000555794.2:c.1128C>A | ||
| NM_006939.2:c.2014C>A | NP_008870.2:p.Leu672Ile | |
| XM_005268021.1:c.1834C>A | XP_005268078.1:p.Leu612Ile | |
| XM_011537103.1:c.1975C>A | XP_011535405.1:p.Leu659Ile | |
| XM_011537104.1:c.2014C>A | XP_011535406.1:p.Leu672Ile | |
| NM_006939.3:c.2014C>A | NP_008870.2:p.Leu672Ile | |
| NM_006939.4:c.2014C>A MANE Select | NP_008870.2:p.Leu672Ile |