Linked Data
ClinVar Variation Id:
255857
ClinVar RCV Id:
RCV000250421
RCV000286461
RCV000290044
RCV000326290
RCV000380892
RCV000713117
RCV000823932
dbSNP Id:
rs201552497
ExAC:
17:62049219 G / T
gnomAD v2:
17-62049219-G-T
gnomAD v3:
17-63971859-G-T
gnomAD v4:
17-63971859-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63971859G>T , CM000679.2:g.63971859G>T | GRCh38 |
| NC_000017.10:g.62049219G>T , CM000679.1:g.62049219G>T | GRCh37 |
| NC_000017.9:g.59402951G>T | NCBI36 |
| NG_011699.1:g.6060C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.483-9C>A MANE Select | ENSP00000396320.1:n.483-9C>A | |
| ENST00000578147.5:c.483-9C>A | ENSP00000463963.1:n.483-9C>A | |
| NM_000334.4:c.483-9C>A MANE Select | NP_000325.4:n.483-9C>A | |
| XM_005257566.3:c.483-9C>A | XP_005257623.1:n.483-9C>A |