Linked Data
ClinVar Variation Id:
430713
ClinVar RCV Id:
RCV000495838
dbSNP Id:
rs1131692059
gnomAD v4:
6-152011740-G-A
PubMed:
PMID:27754803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152011740G>A , CM000668.2:g.152011740G>A | GRCh38 |
| NC_000006.11:g.152332875G>A , CM000668.1:g.152332875G>A | GRCh37 |
| NC_000006.10:g.152374568G>A | NCBI36 |
| NG_008493.1:g.326245G>A | |
| NG_008493.2:g.360050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1181G>A MANE Select | ENSP00000206249.3:p.Arg394His | |
| ENST00000638569.1:c.42+67491G>A | ENSP00000491412.1:n.42+67491G>A | |
| ENST00000641399.1:n.509G>A | ||
| ENST00000206249.7:c.1181G>A | ENSP00000206249.3:p.Arg394His | |
| ENST00000338799.9:c.1181G>A | ENSP00000342630.5:p.Arg394His | |
| ENST00000406599.5:c.453-49251G>A | ENSP00000384064.1:n.453-49251G>A | |
| ENST00000415488.1:c.200G>A | ENSP00000401995.1:p.Arg67His | |
| ENST00000427531.6:c.662G>A | ENSP00000394721.2:p.Arg221His | |
| ENST00000440973.5:c.1181G>A | ENSP00000405330.1:p.Arg394His | |
| ENST00000443427.5:c.1181G>A | ENSP00000387500.1:p.Arg394His | |
| ENST00000456483.3:c.*111-49251G>A | ENSP00000415934.3:n.*111-49251G>A | |
| NM_000125.3:c.1181G>A | NP_000116.2:p.Arg394His | |
| NM_001122740.1:c.1181G>A | NP_001116212.1:p.Arg394His | |
| NM_001122741.1:c.1181G>A | NP_001116213.1:p.Arg394His | |
| NM_001122742.1:c.1181G>A | NP_001116214.1:p.Arg394His | |
| NM_001291230.1:c.1187G>A | NP_001278159.1:p.Arg396His | |
| NM_001291241.1:c.1178G>A | NP_001278170.1:p.Arg393His | |
| XM_006715374.2:c.1181G>A | XP_006715437.1:p.Arg394His | |
| XM_006715375.2:c.662G>A | XP_006715438.1:p.Arg221His | |
| XM_011535543.1:c.1181G>A | XP_011533845.1:p.Arg394His | |
| XM_011535544.1:c.1181G>A | XP_011533846.1:p.Arg394His | |
| XM_011535545.1:c.1181G>A | XP_011533847.1:p.Arg394His | |
| XM_011535546.1:c.1181G>A | XP_011533848.1:p.Arg394His | |
| XM_011535547.1:c.1181G>A | XP_011533849.1:p.Arg394His | |
| XM_011535548.1:c.662G>A | XP_011533850.1:p.Arg221His | |
| XM_011535549.1:c.452G>A | XP_011533851.1:p.Arg151His | |
| NM_001328100.1:c.662G>A | NP_001315029.1:p.Arg221His | |
| XM_006715374.3:c.1181G>A | XP_006715437.1:p.Arg394His | |
| XM_006715375.3:c.662G>A | XP_006715438.1:p.Arg221His | |
| XM_011535543.2:c.1181G>A | XP_011533845.1:p.Arg394His | |
| XM_011535544.2:c.1181G>A | XP_011533846.1:p.Arg394His | |
| XM_011535545.2:c.1181G>A | XP_011533847.1:p.Arg394His | |
| XM_011535547.2:c.1181G>A | XP_011533849.1:p.Arg394His | |
| XM_011535549.2:c.452G>A | XP_011533851.1:p.Arg151His | |
| XM_017010376.1:c.1181G>A | XP_016865865.1:p.Arg394His | |
| XM_017010377.1:c.1181G>A | XP_016865866.1:p.Arg394His | |
| XM_017010378.1:c.1181G>A | XP_016865867.1:p.Arg394His | |
| XM_017010379.1:c.1181G>A | XP_016865868.1:p.Arg394His | |
| XM_017010380.1:c.1181G>A | XP_016865869.1:p.Arg394His | |
| XM_017010381.1:c.1181G>A | XP_016865870.1:p.Arg394His | |
| XM_017010382.2:c.524G>A | XP_016865871.1:p.Arg175His | |
| XM_017010383.1:c.392G>A | XP_016865872.1:p.Arg131His | |
| XR_001743223.2:n.1467-49251G>A | ||
| XR_002956266.1:n.1467-49251G>A | ||
| NM_000125.4:c.1181G>A MANE Select | NP_000116.2:p.Arg394His | |
| NM_001328100.2:c.662G>A | NP_001315029.1:p.Arg221His | |
| NM_001122740.2:c.1181G>A | NP_001116212.1:p.Arg394His | |
| NM_001122741.2:c.1181G>A | NP_001116213.1:p.Arg394His | |
| NM_001122742.2:c.1181G>A | NP_001116214.1:p.Arg394His | |
| NM_001291230.2:c.1187G>A | NP_001278159.1:p.Arg396His | |
| NM_001291241.2:c.1178G>A | NP_001278170.1:p.Arg393His | |
| NM_001385568.1:c.1181G>A | NP_001372497.1:p.Arg394His | |
| NM_001385569.1:c.1181G>A | NP_001372498.1:p.Arg394His | |
| NM_001385570.1:c.1181G>A | NP_001372499.1:p.Arg394His | |
| NM_001385571.1:c.1181G>A | NP_001372500.1:p.Arg394His | |
| NM_001385572.1:c.1181G>A | NP_001372501.1:p.Arg394His |