Linked Data
ClinVar Variation Id:
357675
ClinVar RCV Id:
RCV000332743
dbSNP Id:
rs188094485
ExAC:
6:6225106 G / A
gnomAD v2:
6-6225106-G-A
gnomAD v3:
6-6224873-G-A
gnomAD v4:
6-6224873-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224873G>A , CM000668.2:g.6224873G>A | GRCh38 |
| NC_000006.11:g.6225106G>A , CM000668.1:g.6225106G>A | GRCh37 |
| NC_000006.10:g.6170105G>A | NCBI36 |
| NG_008107.1:g.100819C>T , LRG_549:g.100819C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.799-13C>T MANE Select | ENSP00000264870.3:n.799-13C>T | |
| ENST00000264870.7:c.799-13C>T | ENSP00000264870.3:n.799-13C>T | |
| NM_000129.3:c.799-13C>T , LRG_549t1:c.799-13C>T | NP_000120.2:n.799-13C>T | |
| XM_006715010.2:c.799-13C>T | XP_006715073.1:n.799-13C>T | |
| XM_011514342.1:c.961-13C>T | XP_011512644.1:n.961-13C>T | |
| NM_000129.4:c.799-13C>T MANE Select | NP_000120.2:n.799-13C>T |