Linked Data
ClinVar Variation Id:
14360
ClinVar RCV Id:
RCV000015434
dbSNP Id:
rs1048661
ExAC:
15:74219546 G / T
gnomAD:
15:74219546 G / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73927205G>T , CM000677.2:g.73927205G>T | GRCh38 |
| NC_000015.9:g.74219546G>T , CM000677.1:g.74219546G>T | GRCh37 |
| NC_000015.8:g.72006599G>T | NCBI36 |
| NG_011466.1:g.5758G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261921.8:c.422G>T MANE Select | ENSP00000261921.7:p.Arg141Leu | |
| ENST00000261921.7:c.422G>T | ENSP00000261921.7:p.Arg141Leu | |
| ENST00000566011.5:c.422G>T | ENSP00000457827.1:p.Arg141Leu | |
| NM_005576.2:c.422G>T | NP_005567.2:p.Arg141Leu | |
| XM_011521555.1:c.422G>T | XP_011519857.1:p.Arg141Leu | |
| NM_005576.3:c.422G>T | NP_005567.2:p.Arg141Leu | |
| XM_011521555.2:c.422G>T | XP_011519857.1:p.Arg141Leu | |
| NM_005576.4:c.422G>T MANE Select | NP_005567.2:p.Arg141Leu |