Linked Data
dbSNP Id:
rs116323614
gnomAD v2:
2-179985544-G-A
gnomAD v3:
2-179120817-G-A
gnomAD v4:
2-179120817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.179120817G>A , CM000664.2:g.179120817G>A | GRCh38 |
| NC_000002.11:g.179985544G>A , CM000664.1:g.179985544G>A | GRCh37 |
| NC_000002.10:g.179693789G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428443.8:c.1442+953C>T MANE Select | ENSP00000415332.2:n.1442+953C>T | |
| ENST00000335289.5:c.479+953C>T | ||
| ENST00000428443.7:c.1442+953C>T | ENSP00000415332.2:n.1442+953C>T | |
| ENST00000446758.5:c.379+953C>T | ||
| NM_178123.4:c.1442+953C>T | NP_835224.3:n.1442+953C>T | |
| XM_011512139.1:c.1442+953C>T | XP_011510441.1:n.1442+953C>T | |
| XM_011512140.1:c.1442+953C>T | XP_011510442.1:n.1442+953C>T | |
| XM_011512141.1:c.1196+953C>T | XP_011510443.1:n.1196+953C>T | |
| XR_923061.1:n.1352+953C>T | ||
| XM_011512139.2:c.1442+953C>T | XP_011510441.1:n.1442+953C>T | |
| XM_011512141.2:c.1196+953C>T | XP_011510443.1:n.1196+953C>T | |
| XM_017005250.1:c.1442+953C>T | XP_016860739.1:n.1442+953C>T | |
| XM_017005251.1:c.983+953C>T | XP_016860740.1:n.983+953C>T | |
| XR_001739031.1:n.1467+953C>T | ||
| XR_001739032.1:n.1352+953C>T | ||
| NM_178123.5:c.1442+953C>T MANE Select | NP_835224.3:n.1442+953C>T |