Linked Data
ClinVar Variation Id:
2737958
ClinVar RCV Id:
RCV003497396
dbSNP Id:
rs758855467
gnomAD v2:
15-38591594-G-T
gnomAD v4:
15-38299393-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299393G>T , CM000677.2:g.38299393G>T | GRCh38 |
| NC_000015.9:g.38591594G>T , CM000677.1:g.38591594G>T | GRCh37 |
| NC_000015.8:g.36378886G>T | NCBI36 |
| NG_008980.1:g.51543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.53G>T MANE Select | ENSP00000299084.4:p.Arg18Leu | |
| ENST00000299084.8:c.53G>T | ENSP00000299084.4:p.Arg18Leu | |
| ENST00000561205.1:n.391G>T | ||
| ENST00000561317.1:c.-11G>T | ENSP00000453680.1:n.-11G>T | |
| NM_152594.2:c.53G>T | NP_689807.1:p.Arg18Leu | |
| XM_005254202.2:c.89G>T | XP_005254259.1:p.Arg30Leu | |
| XM_005254203.3:c.-15-22848G>T | XP_005254260.1:n.-15-22848G>T | |
| XM_011521288.1:c.-11G>T | XP_011519590.1:n.-11G>T | |
| XM_011521289.1:c.-11G>T | XP_011519591.1:n.-11G>T | |
| XM_011521290.1:c.-11G>T | XP_011519592.1:n.-11G>T | |
| XM_005254202.3:c.89G>T | XP_005254259.1:p.Arg30Leu | |
| XM_011521289.3:c.-11G>T | XP_011519591.1:n.-11G>T | |
| NM_152594.3:c.53G>T MANE Select | NP_689807.1:p.Arg18Leu |