Linked Data
ClinVar Variation Id:
216354
ClinVar RCV Id:
RCV000198539
RCV000569330
RCV002273983
RCV002288815
RCV003493487
RCV003462325
RCV003997020
dbSNP Id:
rs767520406
ExAC:
2:47705579 G / T
gnomAD v2:
2-47705579-G-T
gnomAD v3:
2-47478440-G-T
gnomAD v4:
2-47478440-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478440G>T , CM000664.2:g.47478440G>T | GRCh38 |
| NC_000002.11:g.47705579G>T , CM000664.1:g.47705579G>T | GRCh37 |
| NC_000002.10:g.47559083G>T | NCBI36 |
| NG_007110.2:g.80317G>T , LRG_218:g.80317G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2379G>T | ENSP00000495641.2:p.Gln793His | |
| ENST00000233146.7:c.2379G>T MANE Select | ENSP00000233146.2:p.Gln793His | |
| ENST00000543555.6:c.2181G>T | ENSP00000442697.1:p.Gln727His | |
| ENST00000644092.1:c.*679G>T | ENSP00000496351.1:n.*679G>T | |
| ENST00000644900.1:c.232G>T | ||
| ENST00000645339.1:c.2379G>T | ENSP00000496441.1:p.Gln793His | |
| ENST00000645506.1:c.2379G>T | ENSP00000495455.1:p.Gln793His | |
| ENST00000646415.1:c.2379G>T | ENSP00000495543.1:p.Gln793His | |
| ENST00000233146.6:c.2379G>T | ENSP00000233146.2:p.Gln793His | |
| ENST00000406134.5:c.2379G>T | ENSP00000384199.1:p.Gln793His | |
| ENST00000543555.5:c.2181G>T | ENSP00000442697.1:p.Gln727His | |
| ENST00000610696.4:c.*775G>T | ENSP00000483159.1:n.*775G>T | |
| ENST00000613514.4:c.*919G>T | ENSP00000484137.1:n.*919G>T | |
| ENST00000617333.3:c.*1145G>T | ENSP00000482468.1:n.*1145G>T | |
| ENST00000617938.4:c.*1351G>T | ENSP00000481158.1:n.*1351G>T | |
| ENST00000621359.2:c.2378G>T | ENSP00000481416.1:p.Arg793Ile | |
| NM_000251.2:c.2379G>T , LRG_218t1:c.2379G>T | NP_000242.1:p.Gln793His | |
| NM_001258281.1:c.2181G>T | NP_001245210.1:p.Gln727His | |
| XM_005264332.2:c.2379G>T | XP_005264389.2:p.Gln793His | |
| XM_011532867.1:c.2379G>T | XP_011531169.1:p.Gln793His | |
| XR_939685.1:n.2451G>T | ||
| XM_005264332.4:c.2379G>T | XP_005264389.2:p.Gln793His | |
| XM_011532867.2:c.2379G>T | XP_011531169.1:p.Gln793His | |
| XR_001738747.2:n.2441G>T | ||
| XR_939685.2:n.2441G>T | ||
| NM_000251.3:c.2379G>T MANE Select | NP_000242.1:p.Gln793His |