Linked Data
ClinVar Variation Id:
254732
dbSNP Id:
rs141888548
ExAC:
9:104187729 C / T
gnomAD v2:
9-104187729-C-T
gnomAD v3:
9-101425447-C-T
gnomAD v4:
9-101425447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425447C>T , CM000671.2:g.101425447C>T | GRCh38 |
| NC_000009.11:g.104187729C>T , CM000671.1:g.104187729C>T | GRCh37 |
| NC_000009.10:g.103227550C>T | NCBI36 |
| NG_012387.1:g.15334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.799+6G>A MANE Select | ENSP00000497767.1:n.799+6G>A | |
| ENST00000648064.1:c.799+6G>A | ENSP00000497990.1:n.799+6G>A | |
| ENST00000648758.1:c.799+6G>A | ENSP00000497731.1:n.799+6G>A | |
| ENST00000649902.1:c.799+6G>A | ENSP00000497216.1:n.799+6G>A | |
| ENST00000374855.8:c.799+6G>A | ENSP00000363988.4:n.799+6G>A | |
| ENST00000616752.1:c.799+6G>A | ENSP00000481363.1:n.799+6G>A | |
| NM_000035.3:c.799+6G>A | NP_000026.2:n.799+6G>A | |
| NM_000035.4:c.799+6G>A MANE Select | NP_000026.2:n.799+6G>A |