Linked Data
dbSNP Id:
rs267759
gnomAD v2:
5-36137620-A-G
gnomAD v3:
5-36137518-A-G
gnomAD v4:
5-36137518-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36137518A>G , CM000667.2:g.36137518A>G | GRCh38 |
| NC_000005.9:g.36137620A>G , CM000667.1:g.36137620A>G | GRCh37 |
| NC_000005.8:g.36173377A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296603.5:c.369-77T>C MANE Select | ENSP00000296603.4:n.369-77T>C | |
| ENST00000296603.4:c.369-77T>C | ENSP00000296603.4:n.369-77T>C | |
| NM_001007527.1:c.369-77T>C | NP_001007528.1:n.369-77T>C | |
| XM_011514162.1:c.369-77T>C | XP_011512464.1:n.369-77T>C | |
| XM_011514162.2:c.369-77T>C | XP_011512464.1:n.369-77T>C | |
| XM_017010024.2:c.-467-77T>C | XP_016865513.1:n.-467-77T>C | |
| XR_001742339.1:n.832-77T>C | ||
| XR_001742340.2:n.1267-77T>C | ||
| NM_001007527.2:c.369-77T>C MANE Select | NP_001007528.1:n.369-77T>C |