Linked Data
ClinVar Variation Id:
2614416
ClinVar RCV Id:
RCV003364849
dbSNP Id:
rs762723508
ExAC:
X:84526460 A / G
gnomAD v2:
X-84526460-A-G
gnomAD v3:
X-85271454-A-G
gnomAD v4:
X-85271454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85271454A>G , CM000685.2:g.85271454A>G | GRCh38 |
| NC_000023.10:g.84526460A>G , CM000685.1:g.84526460A>G | GRCh37 |
| NC_000023.9:g.84413116A>G | NCBI36 |
| NG_012535.1:g.32464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674551.1:c.2050A>G MANE Select | ENSP00000502839.1:p.Ser684Gly | |
| ENST00000276123.7:c.1912A>G | ENSP00000276123.3:p.Ser638Gly | |
| ENST00000360700.4:c.2050A>G | ENSP00000353922.4:p.Ser684Gly | |
| ENST00000373165.7:c.1912A>G | ENSP00000362260.3:p.Ser638Gly | |
| NM_021998.4:c.1912A>G | NP_068838.3:p.Ser638Gly | |
| XM_005262186.1:c.2050A>G | XP_005262243.1:p.Ser684Gly | |
| XM_005262187.1:c.2050A>G | XP_005262244.1:p.Ser684Gly | |
| XM_005262188.1:c.2050A>G | XP_005262245.1:p.Ser684Gly | |
| XM_005262189.1:c.1912A>G | XP_005262246.1:p.Ser638Gly | |
| XM_011531019.1:c.2062A>G | XP_011529321.1:p.Ser688Gly | |
| XM_011531020.1:c.2062A>G | XP_011529322.1:p.Ser688Gly | |
| XM_011531021.1:c.2062A>G | XP_011529323.1:p.Ser688Gly | |
| XM_011531022.1:c.2062A>G | XP_011529324.1:p.Ser688Gly | |
| XM_011531023.1:c.2062A>G | XP_011529325.1:p.Ser688Gly | |
| XM_011531024.1:c.2050A>G | XP_011529326.1:p.Ser684Gly | |
| XM_011531025.1:c.1924A>G | XP_011529327.1:p.Ser642Gly | |
| XM_011531026.1:c.1912A>G | XP_011529328.1:p.Ser638Gly | |
| NM_001330574.1:c.2050A>G | NP_001317503.1:p.Ser684Gly | |
| XM_005262186.3:c.2050A>G | XP_005262243.1:p.Ser684Gly | |
| XM_005262189.3:c.1912A>G | XP_005262246.1:p.Ser638Gly | |
| XM_011531023.3:c.2062A>G | XP_011529325.1:p.Ser688Gly | |
| XM_017029803.1:c.2062A>G | XP_016885292.1:p.Ser688Gly | |
| XM_017029805.1:c.2050A>G | XP_016885294.1:p.Ser684Gly | |
| XM_017029807.1:c.1912A>G | XP_016885296.1:p.Ser638Gly | |
| XM_017029808.1:c.1912A>G | XP_016885297.1:p.Ser638Gly | |
| XM_017029809.1:c.1912A>G | XP_016885298.1:p.Ser638Gly | |
| NM_001330574.2:c.2050A>G MANE Select | NP_001317503.1:p.Ser684Gly | |
| NM_001375431.1:c.2050A>G | NP_001362360.1:p.Ser684Gly | |
| NM_001375432.1:c.2050A>G | NP_001362361.1:p.Ser684Gly | |
| NM_001375433.1:c.2050A>G | NP_001362362.1:p.Ser684Gly | |
| NM_001375434.1:c.1912A>G | NP_001362363.1:p.Ser638Gly | |
| NM_001375435.1:c.1912A>G | NP_001362364.1:p.Ser638Gly | |
| NM_001375436.1:c.1912A>G | NP_001362365.1:p.Ser638Gly | |
| NM_001375437.1:c.1912A>G | NP_001362366.1:p.Ser638Gly | |
| NM_021998.5:c.1912A>G | NP_068838.3:p.Ser638Gly |