Linked Data
ClinVar Variation Id:
17233
ClinVar RCV Id:
RCV000018773
dbSNP Id:
rs72656357
gnomAD v4:
7-94401622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401622T>C , CM000669.2:g.94401622T>C | GRCh38 |
| NC_000007.13:g.94030934T>C , CM000669.1:g.94030934T>C | GRCh37 |
| NC_000007.12:g.93868870T>C | NCBI36 |
| NG_007405.1:g.12062T>C , LRG_2:g.12062T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.279+2T>C MANE Select | ENSP00000297268.6:n.279+2T>C | |
| ENST00000297268.10:c.279+2T>C | ENSP00000297268.6:n.279+2T>C | |
| ENST00000620463.1:c.273+2T>C | ENSP00000477719.1:n.273+2T>C | |
| NM_000089.3:c.279+2T>C , LRG_2t1:c.279+2T>C | NP_000080.2:n.279+2T>C | |
| NM_000089.4:c.279+2T>C MANE Select | NP_000080.2:n.279+2T>C |