Linked Data
dbSNP Id:
rs762944526
ExAC:
8:87644930 G / A
gnomAD v2:
8-87644930-G-A
gnomAD v4:
8-86632702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632702G>A , CM000670.2:g.86632702G>A | GRCh38 |
| NC_000008.10:g.87644930G>A , CM000670.1:g.87644930G>A | GRCh37 |
| NC_000008.9:g.87714046G>A | NCBI36 |
| NG_016980.1:g.115974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1320+50C>T MANE Select | ENSP00000316605.5:n.1320+50C>T | |
| ENST00000681546.1:n.1140+50C>T | ||
| ENST00000681746.1:c.1320+50C>T | ENSP00000505959.1:n.1320+50C>T | |
| ENST00000320005.5:c.1320+50C>T | ENSP00000316605.5:n.1320+50C>T | |
| NM_019098.4:c.1320+50C>T | NP_061971.3:n.1320+50C>T | |
| XM_011517138.1:c.906+50C>T | XP_011515440.1:n.906+50C>T | |
| XM_011517138.2:c.906+50C>T | XP_011515440.1:n.906+50C>T | |
| NM_019098.5:c.1320+50C>T MANE Select | NP_061971.3:n.1320+50C>T |