ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425664G>A , CM000669.2:g.94425664G>A | GRCh38 |
| NC_000007.13:g.94054976G>A , CM000669.1:g.94054976G>A | GRCh37 |
| NC_000007.12:g.93892912G>A | NCBI36 |
| NG_007405.1:g.36104G>A , LRG_2:g.36104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2835+1G>A MANE Select | ENSP00000297268.6:n.2835+1G>A | |
| ENST00000297268.10:c.2835+1G>A | ENSP00000297268.6:n.2835+1G>A | |
| ENST00000469732.1:n.618+1G>A | ||
| ENST00000478215.1:n.394+1G>A | ||
| ENST00000481570.5:n.2808+1G>A | ||
| ENST00000620463.1:c.2829+1G>A | ENSP00000477719.1:n.2829+1G>A | |
| NM_000089.3:c.2835+1G>A , LRG_2t1:c.2835+1G>A | NP_000080.2:n.2835+1G>A | |
| NM_000089.4:c.2835+1G>A MANE Select | NP_000080.2:n.2835+1G>A |