Linked Data
dbSNP Id:
rs764697960
ExAC:
7:94055864 C / T
gnomAD v2:
7-94055864-C-T
gnomAD v4:
7-94426552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426552C>T , CM000669.2:g.94426552C>T | GRCh38 |
| NC_000007.13:g.94055864C>T , CM000669.1:g.94055864C>T | GRCh37 |
| NC_000007.12:g.93893800C>T | NCBI36 |
| NG_007405.1:g.36992C>T , LRG_2:g.36992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+22C>T MANE Select | ENSP00000297268.6:n.3105+22C>T | |
| ENST00000297268.10:c.3105+22C>T | ENSP00000297268.6:n.3105+22C>T | |
| ENST00000478215.1:n.686C>T | ||
| ENST00000481570.5:n.3100C>T | ||
| ENST00000488121.1:n.21+22C>T | ||
| ENST00000620463.1:c.3099+22C>T | ENSP00000477719.1:n.3099+22C>T | |
| NM_000089.3:c.3105+22C>T , LRG_2t1:c.3105+22C>T | NP_000080.2:n.3105+22C>T | |
| NM_000089.4:c.3105+22C>T MANE Select | NP_000080.2:n.3105+22C>T |