Linked Data
ClinVar Variation Id:
3000159
ClinVar RCV Id:
RCV003857334
dbSNP Id:
rs202218431
ExAC:
X:148571877 T / C
gnomAD v2:
X-148571877-T-C
gnomAD v3:
X-149490346-T-C
gnomAD v4:
X-149490346-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490346T>C , CM000685.2:g.149490346T>C | GRCh38 |
| NC_000023.10:g.148571877T>C , CM000685.1:g.148571877T>C | GRCh37 |
| NC_000023.9:g.148379782T>C | NCBI36 |
| NG_011900.3:g.19989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.974A>G MANE Select | ENSP00000339801.6:p.Asn325Ser | |
| ENST00000651111.1:c.341A>G | ENSP00000498395.1:p.Asn114Ser | |
| ENST00000340855.10:c.974A>G | ENSP00000339801.6:p.Asn325Ser | |
| ENST00000370441.8:c.974A>G | ENSP00000359470.4:p.Asn325Ser | |
| ENST00000422081.6:c.341A>G | ENSP00000477056.1:p.Asn114Ser | |
| ENST00000441880.1:n.114-3248A>G | ||
| ENST00000464251.5:c.900A>G | ENSP00000428980.1:n.900A>G | |
| ENST00000466323.5:c.*165A>G | ENSP00000418264.1:n.*165A>G | |
| ENST00000490775.5:n.759A>G | ||
| NM_000202.6:c.974A>G | NP_000193.1:p.Asn325Ser | |
| NM_001166550.2:c.704A>G | NP_001160022.1:p.Asn235Ser | |
| NM_006123.4:c.974A>G | NP_006114.1:p.Asn325Ser | |
| NR_104128.1:n.1321A>G | ||
| NM_000202.7:c.974A>G | NP_000193.1:p.Asn325Ser | |
| NM_001166550.3:c.704A>G | NP_001160022.1:p.Asn235Ser | |
| NM_000202.8:c.974A>G MANE Select | NP_000193.1:p.Asn325Ser | |
| NM_001166550.4:c.704A>G | NP_001160022.1:p.Asn235Ser | |
| NM_006123.5:c.974A>G | NP_006114.1:p.Asn325Ser | |
| NR_104128.2:n.1273A>G |