Linked Data
dbSNP Id:
rs1317390914
gnomAD v2:
2-202505105-T-A
gnomAD v3:
2-201640382-T-A
gnomAD v4:
2-201640382-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201640382T>A , CM000664.2:g.201640382T>A | GRCh38 |
| NC_000002.11:g.202505105T>A , CM000664.1:g.202505105T>A | GRCh37 |
| NC_000002.10:g.202213350T>A | NCBI36 |
| NG_032049.1:g.8148A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621467.5:c.-356+511A>T | ENSP00000480508.2:n.-356+511A>T | |
| ENST00000409883.7:c.75-117A>T MANE Select | ENSP00000386264.2:n.75-117A>T | |
| ENST00000286196.9:c.-1+511A>T | ENSP00000286196.5:n.-1+511A>T | |
| ENST00000409444.6:c.51-117A>T | ENSP00000387203.2:n.51-117A>T | |
| ENST00000409883.6:c.75-117A>T | ENSP00000386264.2:n.75-117A>T | |
| ENST00000432684.6:c.75-117A>T | ENSP00000413230.2:n.75-117A>T | |
| ENST00000444047.6:c.75-117A>T | ENSP00000402681.2:n.75-117A>T | |
| ENST00000463205.2:n.78-117A>T | ||
| ENST00000489550.5:n.92+511A>T | ||
| ENST00000621467.4:c.50+511A>T | ENSP00000480508.1:n.50+511A>T | |
| NM_001044385.2:c.75-117A>T | NP_001037850.1:n.75-117A>T | |
| NM_152388.3:c.51-117A>T | NP_689601.2:n.51-117A>T | |
| NM_001044385.3:c.75-117A>T MANE Select | NP_001037850.1:n.75-117A>T | |
| NM_152388.4:c.51-117A>T | NP_689601.2:n.51-117A>T |