Linked Data
ClinVar Variation Id:
196502
ClinVar RCV Id:
RCV000177321
dbSNP Id:
rs752032951
ExAC:
9:138641988 G / A
gnomAD v2:
9-138641988-G-A
gnomAD v3:
9-135750142-G-A
gnomAD v4:
9-135750142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135750142G>A , CM000671.2:g.135750142G>A | GRCh38 |
| NC_000009.11:g.138641988G>A , CM000671.1:g.138641988G>A | GRCh37 |
| NC_000009.10:g.137781809G>A | NCBI36 |
| NG_033070.1:g.52958G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.299G>A MANE Select | ENSP00000360822.2:p.Arg100Gln | |
| ENST00000637018.1:n.104G>A | ||
| ENST00000638123.1:n.34G>A | ||
| ENST00000674572.1:c.140G>A | ENSP00000501742.1:p.Arg47Gln | |
| ENST00000675090.1:c.47G>A | ENSP00000501833.1:p.Arg16Gln | |
| ENST00000675399.1:c.47G>A | ENSP00000501932.1:p.Arg16Gln | |
| ENST00000676421.1:c.47G>A | ENSP00000502322.1:p.Arg16Gln | |
| ENST00000263604.5:c.200G>A | ENSP00000263604.4:p.Arg67Gln | |
| ENST00000371757.6:c.299G>A | ENSP00000360822.2:p.Arg100Gln | |
| ENST00000460750.5:c.299G>A | ENSP00000418777.1:p.Arg100Gln | |
| ENST00000473941.5:c.140G>A | ENSP00000420764.1:p.Arg47Gln | |
| ENST00000486577.6:c.182G>A | ENSP00000417578.3:p.Arg61Gln | |
| ENST00000487664.5:c.299G>A | ENSP00000417851.2:p.Arg100Gln | |
| ENST00000488444.6:c.242G>A | ENSP00000419007.3:p.Arg81Gln | |
| ENST00000490355.6:c.242G>A | ENSP00000418003.3:p.Arg81Gln | |
| ENST00000491806.6:c.242G>A | ENSP00000419086.3:p.Arg81Gln | |
| ENST00000628528.2:c.155G>A | ENSP00000486374.1:p.Arg52Gln | |
| ENST00000630792.2:c.140G>A | ENSP00000486486.1:p.Arg47Gln | |
| ENST00000631073.2:c.242G>A | ENSP00000486130.1:p.Arg81Gln | |
| NM_001272003.1:c.155G>A | NP_001258932.1:p.Arg52Gln | |
| NM_020822.2:c.299G>A | NP_065873.2:p.Arg100Gln | |
| XM_011518877.1:c.434G>A | XP_011517179.1:p.Arg145Gln | |
| XM_011518878.1:c.434G>A | XP_011517180.1:p.Arg145Gln | |
| XM_011518879.1:c.434G>A | XP_011517181.1:p.Arg145Gln | |
| XM_011518880.1:c.200G>A | XP_011517182.1:p.Arg67Gln | |
| XM_011518877.3:c.434G>A | XP_011517179.1:p.Arg145Gln | |
| XM_011518878.3:c.434G>A | XP_011517180.1:p.Arg145Gln | |
| XM_011518879.3:c.434G>A | XP_011517181.1:p.Arg145Gln | |
| XM_017014931.1:c.324G>A | XP_016870420.1:p.Ala108= | |
| XM_017014932.1:c.47G>A | XP_016870421.1:p.Arg16Gln | |
| XM_017014933.1:c.-121G>A | XP_016870422.1:n.-121G>A | |
| XM_024447617.1:c.-221G>A | XP_024303385.1:n.-221G>A | |
| XM_024447618.1:c.-221G>A | XP_024303386.1:n.-221G>A | |
| NM_020822.3:c.299G>A MANE Select | NP_065873.2:p.Arg100Gln | |
| NM_001272003.2:c.155G>A | NP_001258932.1:p.Arg52Gln |