Linked Data
dbSNP Id:
rs370972364
ExAC:
X:107869553 G / C
gnomAD v2:
X-107869553-G-C
gnomAD v4:
X-108626323-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108626323G>C , CM000685.2:g.108626323G>C | GRCh38 |
| NC_000023.10:g.107869553G>C , CM000685.1:g.107869553G>C | GRCh37 |
| NC_000023.9:g.107756209G>C | NCBI36 |
| NG_011977.1:g.191400G>C | |
| NG_011977.2:g.191400G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3220G>C MANE Select | ENSP00000331902.7:p.Gly1074Arg | |
| ENST00000361603.7:c.3220G>C | ENSP00000354505.2:p.Gly1074Arg | |
| ENST00000328300.10:c.3220G>C | ENSP00000331902.6:p.Gly1074Arg | |
| ENST00000361603.6:c.3220G>C | ENSP00000354505.2:p.Gly1074Arg | |
| ENST00000483338.1:n.2676G>C | ||
| ENST00000505728.1:c.453G>C | ||
| NM_000495.4:c.3220G>C | NP_000486.1:p.Gly1074Arg | |
| NM_033380.2:c.3220G>C | NP_203699.1:p.Gly1074Arg | |
| XM_005262070.2:c.3220G>C | XP_005262127.1:p.Gly1074Arg | |
| XM_005262072.3:c.3220G>C | XP_005262129.1:p.Gly1074Arg | |
| XM_006724616.2:c.3220G>C | XP_006724679.1:p.Gly1074Arg | |
| XM_011530849.1:c.2896G>C | XP_011529151.1:p.Gly966Arg | |
| XM_011530850.1:c.3220G>C | XP_011529152.1:p.Gly1074Arg | |
| XM_011530851.1:c.793G>C | XP_011529153.1:p.Gly265Arg | |
| XM_011530849.2:c.3235G>C | XP_011529151.2:p.Gly1079Arg | |
| XM_017029259.2:c.3235G>C | XP_016884748.1:p.Gly1079Arg | |
| XM_017029260.1:c.3235G>C | XP_016884749.1:p.Gly1079Arg | |
| XM_017029261.1:c.3235G>C | XP_016884750.1:p.Gly1079Arg | |
| XM_017029262.2:c.3235G>C | XP_016884751.1:p.Gly1079Arg | |
| XM_017029263.2:c.1555G>C | XP_016884752.1:p.Gly519Arg | |
| NM_000495.5:c.3220G>C | NP_000486.1:p.Gly1074Arg | |
| NM_033380.3:c.3220G>C MANE Select | NP_203699.1:p.Gly1074Arg |