Linked Data
dbSNP Id:
rs1433068827
gnomAD v2:
17-70119603-G-A
gnomAD v3:
17-72123462-G-A
gnomAD v4:
17-72123462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123462G>A , CM000679.2:g.72123462G>A | GRCh38 |
| NC_000017.10:g.70119603G>A , CM000679.1:g.70119603G>A | GRCh37 |
| NC_000017.9:g.67631198G>A | NCBI36 |
| NG_012490.1:g.7443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.686-81G>A MANE Select | ENSP00000245479.2:n.686-81G>A | |
| ENST00000245479.2:c.686-81G>A | ENSP00000245479.2:n.686-81G>A | |
| NM_000346.3:c.686-81G>A | NP_000337.1:n.686-81G>A | |
| NM_000346.4:c.686-81G>A MANE Select | NP_000337.1:n.686-81G>A |