Linked Data
ClinVar Variation Id:
969289
ClinVar RCV Id:
RCV001244596
dbSNP Id:
rs1657798161
gnomAD v4:
1-215671052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671052T>C , CM000663.2:g.215671052T>C | GRCh38 |
| NC_000001.10:g.215844394T>C , CM000663.1:g.215844394T>C | GRCh37 |
| NC_000001.9:g.213911017T>C | NCBI36 |
| NG_009497.1:g.757345A>G | |
| NG_009497.2:g.757397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14053A>G MANE Select | ENSP00000305941.3:p.Asn4685Asp | |
| ENST00000674083.1:c.14053A>G | ENSP00000501296.1:p.Asn4685Asp | |
| ENST00000307340.7:c.14053A>G | ENSP00000305941.3:p.Asn4685Asp | |
| NM_206933.2:c.14053A>G | NP_996816.2:p.Asn4685Asp | |
| NM_206933.3:c.14053A>G | NP_996816.2:p.Asn4685Asp | |
| NM_206933.4:c.14053A>G MANE Select | NP_996816.3:p.Asn4685Asp |