Linked Data
ClinVar Variation Id:
321882
dbSNP Id:
rs190909610
ExAC:
17:1562847 G / A
gnomAD v2:
17-1562847-G-A
gnomAD v3:
17-1659553-G-A
gnomAD v4:
17-1659553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1659553G>A , CM000679.2:g.1659553G>A | GRCh38 |
| NC_000017.10:g.1562847G>A , CM000679.1:g.1562847G>A | GRCh37 |
| NC_000017.9:g.1509597G>A | NCBI36 |
| NG_009118.1:g.30330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.4767-5C>T | ENSP00000460849.2:n.4767-5C>T | |
| ENST00000703537.1:c.758-5C>T | ||
| ENST00000703538.1:c.*4670-5C>T | ENSP00000515361.1:n.*4670-5C>T | |
| ENST00000703539.1:n.1261-5C>T | ||
| ENST00000703540.1:c.4800-5C>T | ENSP00000515362.1:n.4800-5C>T | |
| ENST00000703541.1:c.4812-5C>T | ENSP00000515363.1:n.4812-5C>T | |
| ENST00000304992.11:c.4947-5C>T MANE Select | ENSP00000304350.6:n.4947-5C>T | |
| ENST00000304992.10:c.4947-5C>T | ENSP00000304350.6:n.4947-5C>T | |
| ENST00000572621.5:c.4947-5C>T | ENSP00000460348.1:n.4947-5C>T | |
| ENST00000573681.1:n.955C>T | ||
| NM_006445.3:c.4947-5C>T | NP_006436.3:n.4947-5C>T | |
| XM_024450537.1:c.4947-5C>T | XP_024306305.1:n.4947-5C>T | |
| NM_006445.4:c.4947-5C>T MANE Select | NP_006436.3:n.4947-5C>T |