Linked Data
dbSNP Id:
rs757434647
ExAC:
7:128489196 T / G
gnomAD v2:
7-128489196-T-G
gnomAD v4:
7-128849142-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128849142T>G , CM000669.2:g.128849142T>G | GRCh38 |
| NC_000007.13:g.128489196T>G , CM000669.1:g.128489196T>G | GRCh37 |
| NC_000007.12:g.128276432T>G | NCBI36 |
| NG_011807.1:g.23714T>G , LRG_870:g.23714T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4928-39T>G MANE Select | ENSP00000327145.8:n.4928-39T>G | |
| ENST00000325888.12:c.4928-39T>G | ENSP00000327145.8:n.4928-39T>G | |
| ENST00000346177.6:c.4928-39T>G | ENSP00000344002.6:n.4928-39T>G | |
| NM_001127487.1:c.4928-39T>G | NP_001120959.1:n.4928-39T>G | |
| NM_001458.4:c.4928-39T>G , LRG_870t1:c.4928-39T>G | NP_001449.3:n.4928-39T>G | |
| NM_001127487.2:c.4928-39T>G | NP_001120959.1:n.4928-39T>G | |
| NM_001458.5:c.4928-39T>G MANE Select | NP_001449.3:n.4928-39T>G |