Linked Data
ClinVar Variation Id:
374890
ClinVar RCV Id:
RCV000415578
dbSNP Id:
rs1057519293
gnomAD v2:
1-17322757-G-A
gnomAD v4:
1-16996262-G-A
PubMed:
PMID:28137957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16996262G>A , CM000663.2:g.16996262G>A | GRCh38 |
| NC_000001.10:g.17322757G>A , CM000663.1:g.17322757G>A | GRCh37 |
| NC_000001.9:g.17195344G>A | NCBI36 |
| NG_009054.1:g.20667C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.1345C>T MANE Select | ENSP00000327214.8:p.Arg449Ter | |
| ENST00000326735.12:c.1345C>T | ENSP00000327214.8:p.Arg449Ter | |
| ENST00000341676.9:c.1330C>T | ENSP00000341115.5:p.Arg444Ter | |
| ENST00000452699.5:c.1330C>T | ENSP00000413307.1:p.Arg444Ter | |
| ENST00000463860.5:n.953C>T | ||
| ENST00000502860.1:n.373C>T | ||
| ENST00000503552.1:c.22C>T | ENSP00000421126.1:p.Arg8Ter | |
| ENST00000506174.5:c.487C>T | ENSP00000424393.1:p.Arg163Ter | |
| ENST00000509392.1:n.433C>T | ||
| ENST00000617114.4:c.373C>T | ENSP00000478781.1:p.Arg125Ter | |
| NM_001141973.2:c.1330C>T | NP_001135445.1:p.Arg444Ter | |
| NM_001141974.2:c.1330C>T | NP_001135446.1:p.Arg444Ter | |
| NM_022089.3:c.1345C>T | NP_071372.1:p.Arg449Ter | |
| XM_005245809.1:c.1345C>T | XP_005245866.1:p.Arg449Ter | |
| XM_005245810.1:c.1342C>T | XP_005245867.1:p.Arg448Ter | |
| XM_005245811.1:c.1330C>T | XP_005245868.1:p.Arg444Ter | |
| XM_005245812.1:c.1318C>T | XP_005245869.1:p.Arg440Ter | |
| XM_005245813.1:c.1345C>T | XP_005245870.1:p.Arg449Ter | |
| XM_005245815.1:c.1345C>T | XP_005245872.1:p.Arg449Ter | |
| XM_006710512.1:c.1327C>T | XP_006710575.1:p.Arg443Ter | |
| XM_006710513.1:c.1303C>T | XP_006710576.1:p.Arg435Ter | |
| XM_011541128.1:c.1345C>T | XP_011539430.1:p.Arg449Ter | |
| XM_011541129.1:c.1345C>T | XP_011539431.1:p.Arg449Ter | |
| XM_017000844.1:c.1345C>T | XP_016856333.1:p.Arg449Ter | |
| XM_017000845.1:c.1327C>T | XP_016856334.1:p.Arg443Ter | |
| XM_017000846.1:c.1303C>T | XP_016856335.1:p.Arg435Ter | |
| XM_017000847.1:c.1315C>T | XP_016856336.1:p.Arg439Ter | |
| XM_017000848.1:c.1345C>T | XP_016856337.1:p.Arg449Ter | |
| XM_017000849.1:c.1330C>T | XP_016856338.1:p.Arg444Ter | |
| XM_017000850.1:c.1345C>T | XP_016856339.1:p.Arg449Ter | |
| NM_022089.4:c.1345C>T MANE Select | NP_071372.1:p.Arg449Ter | |
| NM_001141973.3:c.1330C>T | NP_001135445.1:p.Arg444Ter | |
| NM_001141974.3:c.1330C>T | NP_001135446.1:p.Arg444Ter |