Linked Data
dbSNP Id:
rs2444217
gnomAD v2:
16-4038387-G-A
gnomAD v3:
16-3988386-G-A
gnomAD v4:
16-3988386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3988386G>A , CM000678.2:g.3988386G>A | GRCh38 |
| NC_000016.9:g.4038387G>A , CM000678.1:g.4038387G>A | GRCh37 |
| NC_000016.8:g.3978388G>A | NCBI36 |
| NG_011434.1:g.132800C>T | |
| NG_011434.2:g.132800C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294016.8:c.2310+608C>T MANE Select | ENSP00000294016.3:n.2310+608C>T | |
| ENST00000294016.7:c.2310+608C>T | ENSP00000294016.3:n.2310+608C>T | |
| ENST00000575550.5:n.520+608C>T | ||
| ENST00000576936.5:c.7+608C>T | ||
| NM_001116.3:c.2310+608C>T | NP_001107.2:n.2310+608C>T | |
| XM_005255079.2:c.2367+608C>T | XP_005255136.1:n.2367+608C>T | |
| XM_011522353.1:c.2367+608C>T | XP_011520655.1:n.2367+608C>T | |
| XM_005255079.3:c.2367+608C>T | XP_005255136.1:n.2367+608C>T | |
| XM_011522353.2:c.2367+608C>T | XP_011520655.1:n.2367+608C>T | |
| NM_001116.4:c.2310+608C>T MANE Select | NP_001107.2:n.2310+608C>T |