Linked Data
ClinVar Variation Id:
374915
ClinVar RCV Id:
RCV000415517
dbSNP Id:
rs1057519303
gnomAD v4:
15-41812609-C-T
PubMed:
PMID:28089251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41812609C>T , CM000677.2:g.41812609C>T | GRCh38 |
| NC_000015.9:g.42104807C>T , CM000677.1:g.42104807C>T | GRCh37 |
| NC_000015.8:g.39892099C>T | NCBI36 |
| NG_054745.1:g.43176C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457542.7:c.592C>T MANE Select | ENSP00000397570.2:p.Arg198Ter | |
| ENST00000456763.6:c.592C>T | ENSP00000393099.2:p.Arg198Ter | |
| ENST00000457542.6:c.592C>T | ENSP00000397570.2:p.Arg198Ter | |
| ENST00000502292.5:n.764C>T | ||
| ENST00000505061.5:n.557C>T | ||
| ENST00000505373.5:c.*290C>T | ENSP00000421891.1:n.*290C>T | |
| ENST00000512970.5:c.592C>T | ENSP00000427582.1:p.Arg198Ter | |
| ENST00000514566.5:c.592C>T | ENSP00000426154.1:p.Arg198Ter | |
| ENST00000515164.1:n.577C>T | ||
| NM_001128608.1:c.592C>T | NP_001122080.1:p.Arg198Ter | |
| NM_001265611.1:c.592C>T | NP_001252540.1:p.Arg198Ter | |
| NM_014994.2:c.592C>T | NP_055809.2:p.Arg198Ter | |
| NR_049761.1:n.878C>T | ||
| NR_049762.1:n.786C>T | ||
| XM_006720438.1:c.592C>T | XP_006720501.1:p.Arg198Ter | |
| XM_011521382.1:c.592C>T | XP_011519684.1:p.Arg198Ter | |
| XM_011521383.1:c.592C>T | XP_011519685.1:p.Arg198Ter | |
| XM_011521384.1:c.592C>T | XP_011519686.1:p.Arg198Ter | |
| XM_011521385.1:c.592C>T | XP_011519687.1:p.Arg198Ter | |
| XM_006720438.2:c.592C>T | XP_006720501.1:p.Arg198Ter | |
| XM_011521383.2:c.592C>T | XP_011519685.1:p.Arg198Ter | |
| XM_011521384.3:c.592C>T | XP_011519686.1:p.Arg198Ter | |
| XM_017022017.1:c.592C>T | XP_016877506.1:p.Arg198Ter | |
| XR_001751156.2:n.840C>T | ||
| XR_001751157.2:n.840C>T | ||
| XR_001751159.2:n.840C>T | ||
| NM_014994.3:c.592C>T MANE Select | NP_055809.2:p.Arg198Ter | |
| NM_001128608.2:c.592C>T | NP_001122080.1:p.Arg198Ter | |
| NM_001265611.2:c.592C>T | NP_001252540.1:p.Arg198Ter | |
| NR_049761.2:n.828C>T | ||
| NR_049762.2:n.736C>T |