Linked Data
ClinVar Variation Id:
198291
dbSNP Id:
rs371229391
ExAC:
X:17743553 G / A
gnomAD v2:
X-17743553-G-A
gnomAD v3:
X-17725433-G-A
gnomAD v4:
X-17725433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17725433G>A , CM000685.2:g.17725433G>A | GRCh38 |
| NC_000023.10:g.17743553G>A , CM000685.1:g.17743553G>A | GRCh37 |
| NC_000023.9:g.17653474G>A | NCBI36 |
| NG_011553.2:g.355014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1722G>A | ||
| ENST00000690213.1:n.3207G>A | ||
| ENST00000690608.1:n.284G>A | ||
| ENST00000676302.1:c.1327G>A MANE Select | ENSP00000502262.1:p.Gly443Arg | |
| ENST00000380060.7:c.1264G>A | ENSP00000369400.3:p.Gly422Arg | |
| ENST00000398097.7:c.796G>A | ENSP00000381170.3:p.Gly266Arg | |
| ENST00000615422.1:c.787G>A | ENSP00000480113.1:p.Gly263Arg | |
| ENST00000617601.4:c.715G>A | ENSP00000478433.1:p.Gly239Arg | |
| NM_001136024.3:c.796G>A | NP_001129496.1:p.Gly266Arg | |
| NM_001291867.1:c.1327G>A | NP_001278796.1:p.Gly443Arg | |
| NM_001291868.1:c.733G>A | NP_001278797.1:p.Gly245Arg | |
| NM_198270.3:c.1264G>A | NP_938011.1:p.Gly422Arg | |
| XM_011545528.1:c.379G>A | XP_011543830.1:p.Gly127Arg | |
| XM_011545528.2:c.379G>A | XP_011543830.1:p.Gly127Arg | |
| NM_001136024.4:c.796G>A | NP_001129496.1:p.Gly266Arg | |
| NM_001291867.2:c.1327G>A MANE Select | NP_001278796.1:p.Gly443Arg | |
| NM_001291868.2:c.733G>A | NP_001278797.1:p.Gly245Arg | |
| NM_198270.4:c.1264G>A | NP_938011.1:p.Gly422Arg |