Linked Data
ClinVar Variation Id:
1496198
ClinVar RCV Id:
RCV001991760
dbSNP Id:
rs1460923575
gnomAD v4:
9-101427517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427517T>C , CM000671.2:g.101427517T>C | GRCh38 |
| NC_000009.11:g.104189799T>C , CM000671.1:g.104189799T>C | GRCh37 |
| NC_000009.10:g.103229620T>C | NCBI36 |
| NG_012387.1:g.13264A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.505A>G MANE Select | ENSP00000497767.1:p.Asn169Asp | |
| ENST00000648064.1:c.505A>G | ENSP00000497990.1:p.Asn169Asp | |
| ENST00000648758.1:c.505A>G | ENSP00000497731.1:p.Asn169Asp | |
| ENST00000649902.1:c.505A>G | ENSP00000497216.1:p.Asn169Asp | |
| ENST00000374855.8:c.505A>G | ENSP00000363988.4:p.Asn169Asp | |
| ENST00000468981.3:n.68-879A>G | ||
| ENST00000616752.1:c.505A>G | ENSP00000481363.1:p.Asn169Asp | |
| NM_000035.3:c.505A>G | NP_000026.2:p.Asn169Asp | |
| NM_000035.4:c.505A>G MANE Select | NP_000026.2:p.Asn169Asp |