Linked Data
ClinVar Variation Id:
221210
ClinVar RCV Id:
RCV000204006
dbSNP Id:
rs193302904
gnomAD v2:
X-148579754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498223C>T , CM000685.2:g.149498223C>T | GRCh38 |
| NC_000023.10:g.148579754C>T , CM000685.1:g.148579754C>T | GRCh37 |
| NC_000023.9:g.148387659C>T | NCBI36 |
| NG_011900.3:g.12112G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.592G>A MANE Select | ENSP00000339801.6:p.Asp198Asn | |
| ENST00000651111.1:c.-42G>A | ENSP00000498395.1:n.-42G>A | |
| ENST00000340855.10:c.592G>A | ENSP00000339801.6:p.Asp198Asn | |
| ENST00000370441.8:c.592G>A | ENSP00000359470.4:p.Asp198Asn | |
| ENST00000422081.6:c.-42G>A | ENSP00000477056.1:n.-42G>A | |
| ENST00000441880.1:n.114-11125G>A | ||
| ENST00000464251.5:c.518G>A | ENSP00000428980.1:n.518G>A | |
| ENST00000466019.1:n.44G>A | ||
| ENST00000466323.5:c.592G>A | ENSP00000418264.1:p.Asp198Asn | |
| ENST00000490775.5:n.377G>A | ||
| ENST00000523759.5:n.706G>A | ||
| NM_000202.6:c.592G>A | NP_000193.1:p.Asp198Asn | |
| NM_001166550.2:c.322G>A | NP_001160022.1:p.Asp108Asn | |
| NM_006123.4:c.592G>A | NP_006114.1:p.Asp198Asn | |
| NR_104128.1:n.809G>A | ||
| NM_000202.7:c.592G>A | NP_000193.1:p.Asp198Asn | |
| NM_001166550.3:c.322G>A | NP_001160022.1:p.Asp108Asn | |
| NM_000202.8:c.592G>A MANE Select | NP_000193.1:p.Asp198Asn | |
| NM_001166550.4:c.322G>A | NP_001160022.1:p.Asp108Asn | |
| NM_006123.5:c.592G>A | NP_006114.1:p.Asp198Asn | |
| NR_104128.2:n.761G>A |