Linked Data
dbSNP Id:
rs1531070
gnomAD v2:
4-140795327-G-A
gnomAD v3:
4-139874173-G-A
gnomAD v4:
4-139874173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874173G>A , CM000666.2:g.139874173G>A | GRCh38 |
| NC_000004.11:g.140795327G>A , CM000666.1:g.140795327G>A | GRCh37 |
| NC_000004.10:g.141014777G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502696.1:c.111-143506C>T | ||
| ENST00000509479.6:c.2079+15184C>T MANE Select | ENSP00000421180.1:n.2079+15184C>T | |
| NM_018717.4:c.2067+15184C>T | NP_061187.2:n.2067+15184C>T | |
| NM_018717.5:c.2079+15184C>T MANE Select | NP_061187.3:n.2079+15184C>T |