Linked Data
ClinVar Variation Id:
230467
ClinVar RCV Id:
RCV000218957
RCV000505900
RCV000457951
RCV000579098
RCV001836756
RCV002494586
RCV003595895
RCV003469003
dbSNP Id:
rs866445127
gnomAD v2:
17-29679366-C-T
gnomAD v4:
17-31352348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31352348C>T , CM000679.2:g.31352348C>T | GRCh38 |
| NC_000017.10:g.29679366C>T , CM000679.1:g.29679366C>T | GRCh37 |
| NC_000017.9:g.26703492C>T | NCBI36 |
| NG_009018.1:g.262372C>T , LRG_214:g.262372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7531C>T | ENSP00000512431.1:p.Arg2511Ter | |
| ENST00000684826.1:c.2113C>T | ENSP00000509994.1:p.Arg705Ter | |
| ENST00000687027.1:c.1705C>T | ENSP00000508715.1:p.Arg569Ter | |
| ENST00000687863.1:n.4194C>T | ||
| ENST00000689464.1:c.599C>T | ||
| ENST00000691014.1:c.7579C>T | ENSP00000510595.1:p.Arg2527Ter | |
| ENST00000693617.1:c.2113C>T | ENSP00000510031.1:p.Arg705Ter | |
| ENST00000358273.9:c.7549C>T MANE Select | ENSP00000351015.4:p.Arg2517Ter | |
| ENST00000356175.7:c.7486C>T | ENSP00000348498.3:p.Arg2496Ter | |
| ENST00000358273.8:c.7549C>T | ENSP00000351015.4:p.Arg2517Ter | |
| ENST00000456735.6:c.6484C>T | ENSP00000389907.2:p.Arg2162Ter | |
| ENST00000471572.6:c.932C>T | ||
| ENST00000579081.5:c.7685C>T | ENSP00000462408.1:n.7685C>T | |
| ENST00000581790.5:c.600+2030C>T | ||
| NM_000267.3:c.7486C>T , LRG_214t1:c.7486C>T | NP_000258.1:p.Arg2496Ter | |
| NM_001042492.2:c.7549C>T , LRG_214t2:c.7549C>T | NP_001035957.1:p.Arg2517Ter | |
| XM_005257983.1:c.7549C>T | XP_005258040.1:p.Arg2517Ter | |
| XM_005257984.1:c.7486C>T | XP_005258041.1:p.Arg2496Ter | |
| XM_006721922.1:c.7579C>T | XP_006721985.1:p.Arg2527Ter | |
| XM_006721923.2:c.7540C>T | XP_006721986.1:p.Arg2514Ter | |
| XM_006721924.1:c.7579C>T | XP_006721987.1:p.Arg2527Ter | |
| XM_006721925.1:c.7516C>T | XP_006721988.1:p.Arg2506Ter | |
| XM_006721926.2:c.7579C>T | XP_006721989.1:p.Arg2527Ter | |
| XM_006721927.1:c.7579C>T | XP_006721990.1:p.Arg2527Ter | |
| XM_011524852.1:c.7576C>T | XP_011523154.1:p.Arg2526Ter | |
| XM_011524853.1:c.7540C>T | XP_011523155.1:p.Arg2514Ter | |
| XM_011524854.1:c.7540C>T | XP_011523156.1:p.Arg2514Ter | |
| XM_011524855.1:c.7540C>T | XP_011523157.1:p.Arg2514Ter | |
| XM_011524856.1:c.7540C>T | XP_011523158.1:p.Arg2514Ter | |
| XM_011524857.1:c.7579C>T | XP_011523159.1:p.Arg2527Ter | |
| NM_001042492.3:c.7549C>T MANE Select | NP_001035957.1:p.Arg2517Ter |