Linked Data
ClinVar Variation Id:
242756
ClinVar RCV Id:
RCV001857788
dbSNP Id:
rs146899669
ExAC:
18:55217985 A / C
gnomAD v2:
18-55217985-A-C
gnomAD v3:
18-57550753-A-C
gnomAD v4:
18-57550753-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57550753A>C , CM000680.2:g.57550753A>C | GRCh38 |
| NC_000018.9:g.55217985A>C , CM000680.1:g.55217985A>C | GRCh37 |
| NC_000018.8:g.53368983A>C | NCBI36 |
| NG_008175.1:g.40985T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262093.11:c.1231T>G MANE Select | ENSP00000262093.6:p.Cys411Gly | |
| ENST00000382873.8:c.1015T>G | ENSP00000372326.4:p.Cys339Gly | |
| ENST00000651787.1:n.1337T>G | ||
| ENST00000652755.1:c.1249T>G | ENSP00000498358.1:p.Cys417Gly | |
| ENST00000262093.9:c.1231T>G | ENSP00000262093.5:p.Cys411Gly | |
| ENST00000382873.7:c.1249T>G | ENSP00000372326.3:p.Cys417Gly | |
| ENST00000585494.5:c.*958T>G | ENSP00000465243.1:n.*958T>G | |
| NM_000140.3:c.1231T>G | NP_000131.2:p.Cys411Gly | |
| NM_001012515.2:c.1249T>G | NP_001012533.1:p.Cys417Gly | |
| XM_011525881.1:c.1150T>G | XP_011524183.1:p.Cys384Gly | |
| XM_011525882.1:c.1015T>G | XP_011524184.1:p.Cys339Gly | |
| NM_000140.4:c.1231T>G | NP_000131.2:p.Cys411Gly | |
| NM_001012515.3:c.1249T>G | NP_001012533.1:p.Cys417Gly | |
| XM_011525882.2:c.1015T>G | XP_011524184.1:p.Cys339Gly | |
| XM_017025614.2:c.1132T>G | XP_016881103.1:p.Cys378Gly | |
| NM_000140.5:c.1231T>G MANE Select | NP_000131.2:p.Cys411Gly | |
| NM_001012515.4:c.1249T>G | NP_001012533.1:p.Cys417Gly | |
| NM_001371094.1:c.1132T>G | NP_001358023.1:p.Cys378Gly | |
| NM_001371095.1:c.1015T>G | NP_001358024.1:p.Cys339Gly | |
| NM_001374778.1:c.1171T>G | NP_001361707.1:p.Cys391Gly |