Linked Data
ClinVar Variation Id:
1602602
ClinVar RCV Id:
RCV002130022
dbSNP Id:
rs2128742744
gnomAD v4:
7-42048704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42048704C>A , CM000669.2:g.42048704C>A | GRCh38 |
| NC_000007.13:g.42088303C>A , CM000669.1:g.42088303C>A | GRCh37 |
| NC_000007.12:g.42054828C>A | NCBI36 |
| NG_008434.1:g.193316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.474-8G>T MANE Select | ENSP00000379258.3:n.474-8G>T | |
| ENST00000677288.1:c.297-8G>T | ENSP00000503986.1:n.297-8G>T | |
| ENST00000677605.1:c.474-8G>T | ENSP00000503743.1:n.474-8G>T | |
| ENST00000678429.1:c.474-8G>T | ENSP00000502957.1:n.474-8G>T | |
| ENST00000395925.7:c.474-8G>T | ENSP00000379258.3:n.474-8G>T | |
| ENST00000448703.5:c.474-8G>T | ENSP00000406135.1:n.474-8G>T | |
| ENST00000479210.1:n.451-8G>T | ||
| NM_000168.5:c.474-8G>T | NP_000159.3:n.474-8G>T | |
| XM_005249703.1:c.474-8G>T | XP_005249760.1:n.474-8G>T | |
| XM_005249704.2:c.474-8G>T | XP_005249761.1:n.474-8G>T | |
| XM_011515272.1:c.474-8G>T | XP_011513574.1:n.474-8G>T | |
| XM_011515273.1:c.474-8G>T | XP_011513575.1:n.474-8G>T | |
| XM_011515274.1:c.297-8G>T | XP_011513576.1:n.297-8G>T | |
| XM_011515274.2:c.297-8G>T | XP_011513576.1:n.297-8G>T | |
| XM_017011997.1:c.471-8G>T | XP_016867486.1:n.471-8G>T | |
| NM_000168.6:c.474-8G>T MANE Select | NP_000159.3:n.474-8G>T |