Linked Data
ClinVar Variation Id:
391358
ClinVar RCV Id:
RCV000443407
dbSNP Id:
rs376676996
ExAC:
17:18027828 G / A
gnomAD v2:
17-18027828-G-A
gnomAD v3:
17-18124514-G-A
gnomAD v4:
17-18124514-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18124514G>A , CM000679.2:g.18124514G>A | GRCh38 |
| NC_000017.10:g.18027828G>A , CM000679.1:g.18027828G>A | GRCh37 |
| NC_000017.9:g.17968553G>A | NCBI36 |
| NG_011634.1:g.20809G>A | |
| NG_011634.2:g.20809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.3641G>A MANE Select | ENSP00000495481.1:p.Arg1214Gln | |
| ENST00000651088.1:c.182G>A | ENSP00000498988.1:p.Arg61Gln | |
| ENST00000205890.9:c.3641G>A | ENSP00000205890.5:p.Arg1214Gln | |
| ENST00000583079.1:n.5347G>A | ||
| ENST00000615845.4:c.3641G>A | ENSP00000481642.1:p.Arg1214Gln | |
| NM_016239.3:c.3641G>A | NP_057323.3:p.Arg1214Gln | |
| XM_011523917.1:c.3641G>A | XP_011522219.1:p.Arg1214Gln | |
| XM_011523918.1:c.3641G>A | XP_011522220.1:p.Arg1214Gln | |
| XM_011523919.1:c.3641G>A | XP_011522221.1:p.Arg1214Gln | |
| XM_011523920.1:c.3641G>A | XP_011522222.1:p.Arg1214Gln | |
| XM_011523921.1:c.3641G>A | XP_011522223.1:p.Arg1214Gln | |
| XR_934037.1:n.4300G>A | ||
| XR_934038.1:n.4300G>A | ||
| XR_934039.1:n.4300G>A | ||
| XM_011523918.2:c.3641G>A | XP_011522220.1:p.Arg1214Gln | |
| XM_017024714.2:c.3641G>A | XP_016880203.1:p.Arg1214Gln | |
| XM_017024715.2:c.3641G>A | XP_016880204.1:p.Arg1214Gln | |
| XM_024450780.1:c.3641G>A | XP_024306548.1:p.Arg1214Gln | |
| XM_024450781.1:c.3641G>A | XP_024306549.1:p.Arg1214Gln | |
| XM_024450782.1:c.3641G>A | XP_024306550.1:p.Arg1214Gln | |
| XR_934039.2:n.4339G>A | ||
| NM_016239.4:c.3641G>A MANE Select | NP_057323.3:p.Arg1214Gln |