Linked Data
ClinVar Variation Id:
1905534
ClinVar RCV Id:
RCV002588812
dbSNP Id:
rs749541765
ExAC:
7:127251748 G / A
gnomAD v2:
7-127251748-G-A
gnomAD v4:
7-127611694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127611694G>A , CM000669.2:g.127611694G>A | GRCh38 |
| NC_000007.13:g.127251748G>A , CM000669.1:g.127251748G>A | GRCh37 |
| NC_000007.12:g.127038984G>A | NCBI36 |
| NG_012848.1:g.9033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.772-18C>T MANE Select | ENSP00000491782.1:n.772-18C>T | |
| ENST00000338516.7:c.772-18C>T | ENSP00000344297.4:n.772-18C>T | |
| ENST00000341640.6:c.748-18C>T | ENSP00000339906.2:n.748-18C>T | |
| ENST00000378740.6:c.748-18C>T | ENSP00000368014.3:n.748-18C>T | |
| ENST00000463946.5:c.742-18C>T | ENSP00000451923.1:n.742-18C>T | |
| ENST00000483494.5:c.*122C>T | ENSP00000473846.1:n.*122C>T | |
| NM_006193.2:c.748-18C>T | NP_006184.2:n.748-18C>T | |
| XM_011516276.1:c.772-18C>T | XP_011514578.1:n.772-18C>T | |
| NM_001366110.1:c.772-18C>T MANE Select | NP_001353039.1:n.772-18C>T | |
| NM_001366111.1:c.772-18C>T | NP_001353040.1:n.772-18C>T |