Linked Data
ClinVar Variation Id:
435360
dbSNP Id:
rs1019146684
gnomAD v2:
X-122459953-C-T
gnomAD v4:
X-123326102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123326102C>T , CM000685.2:g.123326102C>T | GRCh38 |
| NC_000023.10:g.122459953C>T , CM000685.1:g.122459953C>T | GRCh37 |
| NC_000023.9:g.122287634C>T | NCBI36 |
| NG_009377.2:g.146860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620443.2:c.585C>T MANE Select | ENSP00000478489.1:p.Asn195= | |
| ENST00000622768.5:c.585C>T MANE Plus Clinical | ENSP00000481554.1:p.Asn195= | |
| ENST00000541091.5:c.585C>T | ENSP00000446440.2:p.Asn195= | |
| ENST00000620443.1:c.585C>T | ENSP00000478489.1:p.Asn195= | |
| ENST00000620581.4:c.585C>T | ENSP00000481875.1:p.Asn195= | |
| ENST00000622768.4:c.585C>T | ENSP00000481554.1:p.Asn195= | |
| NM_000828.4:c.585C>T | NP_000819.3:p.Asn195= | |
| NM_007325.4:c.585C>T | NP_015564.4:p.Asn195= | |
| NM_007325.5:c.585C>T MANE Select | NP_015564.5:p.Asn195= | |
| NM_000828.5:c.585C>T MANE Plus Clinical | NP_000819.4:p.Asn195= |