Linked Data
ClinVar Variation Id:
762995
ClinVar RCV Id:
RCV000941192
dbSNP Id:
rs200371339
ExAC:
X:107850057 G / A
gnomAD v2:
X-107850057-G-A
gnomAD v3:
X-108606827-G-A
gnomAD v4:
X-108606827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108606827G>A , CM000685.2:g.108606827G>A | GRCh38 |
| NC_000023.10:g.107850057G>A , CM000685.1:g.107850057G>A | GRCh37 |
| NC_000023.9:g.107736713G>A | NCBI36 |
| NG_011977.1:g.171904G>A | |
| NG_011977.2:g.171904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2330G>A MANE Select | ENSP00000331902.7:p.Arg777His | |
| ENST00000361603.7:c.2330G>A | ENSP00000354505.2:p.Arg777His | |
| ENST00000328300.10:c.2330G>A | ENSP00000331902.6:p.Arg777His | |
| ENST00000361603.6:c.2330G>A | ENSP00000354505.2:p.Arg777His | |
| ENST00000483338.1:n.1786G>A | ||
| NM_000495.4:c.2330G>A | NP_000486.1:p.Arg777His | |
| NM_033380.2:c.2330G>A | NP_203699.1:p.Arg777His | |
| XM_005262070.2:c.2330G>A | XP_005262127.1:p.Arg777His | |
| XM_005262072.3:c.2330G>A | XP_005262129.1:p.Arg777His | |
| XM_006724616.2:c.2330G>A | XP_006724679.1:p.Arg777His | |
| XM_011530849.1:c.2006G>A | XP_011529151.1:p.Arg669His | |
| XM_011530850.1:c.2330G>A | XP_011529152.1:p.Arg777His | |
| XM_011530851.1:c.-33+3766G>A | XP_011529153.1:n.-33+3766G>A | |
| XM_011530849.2:c.2345G>A | XP_011529151.2:p.Arg782His | |
| XM_017029259.2:c.2345G>A | XP_016884748.1:p.Arg782His | |
| XM_017029260.1:c.2345G>A | XP_016884749.1:p.Arg782His | |
| XM_017029261.1:c.2345G>A | XP_016884750.1:p.Arg782His | |
| XM_017029262.2:c.2345G>A | XP_016884751.1:p.Arg782His | |
| XM_017029263.2:c.665G>A | XP_016884752.1:p.Arg222His | |
| NM_000495.5:c.2330G>A | NP_000486.1:p.Arg777His | |
| NM_033380.3:c.2330G>A MANE Select | NP_203699.1:p.Arg777His |