Linked Data
ClinVar Variation Id:
2117561
ClinVar RCV Id:
RCV003027807
dbSNP Id:
rs1484664885
gnomAD v2:
1-103474068-C-G
gnomAD v3:
1-103008512-C-G
gnomAD v4:
1-103008512-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103008512C>G , CM000663.2:g.103008512C>G | GRCh38 |
| NC_000001.10:g.103474068C>G , CM000663.1:g.103474068C>G | GRCh37 |
| NC_000001.9:g.103246656C>G | NCBI36 |
| NG_008033.1:g.104985G>C | |
| NG_008033.2:g.104985G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1634G>C MANE Select | ENSP00000359114.3:p.Gly545Ala | |
| ENST00000461720.6:c.1787G>C | ENSP00000494909.1:p.Gly596Ala | |
| ENST00000644186.1:c.1634G>C | ENSP00000493821.1:p.Gly545Ala | |
| ENST00000645458.1:c.1634G>C | ENSP00000494179.1:p.Gly545Ala | |
| ENST00000647280.1:c.1634G>C | ENSP00000494583.1:p.Gly545Ala | |
| ENST00000353414.8:c.1517G>C | ENSP00000302551.6:p.Gly506Ala | |
| ENST00000358392.6:c.1670G>C | ENSP00000351163.2:p.Gly557Ala | |
| ENST00000370096.7:c.1634G>C | ENSP00000359114.3:p.Gly545Ala | |
| ENST00000427239.5:c.1670G>C | ENSP00000408640.1:p.Gly557Ala | |
| ENST00000512756.5:c.1286G>C | ENSP00000426533.1:p.Gly429Ala | |
| ENST00000635193.1:c.952G>C | ||
| NM_001190709.1:c.1517G>C | NP_001177638.1:p.Gly506Ala | |
| NM_001854.3:c.1634G>C | NP_001845.3:p.Gly545Ala | |
| NM_080629.2:c.1670G>C | NP_542196.2:p.Gly557Ala | |
| NM_080630.3:c.1286G>C | NP_542197.3:p.Gly429Ala | |
| XM_011540719.1:c.1634G>C | XP_011539021.1:p.Gly545Ala | |
| XM_011540720.1:c.-85+164G>C | XP_011539022.1:n.-85+164G>C | |
| XM_011540721.1:c.-795G>C | XP_011539023.1:n.-795G>C | |
| XR_946545.1:n.2032G>C | ||
| NR_134980.1:n.1952G>C | ||
| XM_017000334.1:c.1787G>C | XP_016855823.1:p.Gly596Ala | |
| XM_017000335.1:c.1781G>C | XP_016855824.1:p.Gly594Ala | |
| XM_017000336.1:c.1787G>C | XP_016855825.1:p.Gly596Ala | |
| XM_017000337.1:c.185G>C | XP_016855826.1:p.Gly62Ala | |
| NM_001854.4:c.1634G>C MANE Select | NP_001845.3:p.Gly545Ala | |
| NM_080630.4:c.1286G>C | NP_542197.3:p.Gly429Ala | |
| NR_134980.2:n.1978G>C | ||
| NM_001190709.2:c.1517G>C | NP_001177638.1:p.Gly506Ala | |
| NM_080629.3:c.1670G>C | NP_542196.2:p.Gly557Ala |