Linked Data
dbSNP Id:
rs1332099311
gnomAD v2:
3-190120242-A-T
gnomAD v3:
3-190402453-A-T
gnomAD v4:
3-190402453-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402453A>T , CM000665.2:g.190402453A>T | GRCh38 |
| NC_000003.11:g.190120242A>T , CM000665.1:g.190120242A>T | GRCh37 |
| NC_000003.10:g.191602936A>T | NCBI36 |
| NG_008149.1:g.19402A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.217+14A>T MANE Select | ENSP00000264734.3:n.217+14A>T | |
| ENST00000456423.2:c.115-7450A>T | ENSP00000414136.2:n.115-7450A>T | |
| ENST00000264734.2:c.427+14A>T | ENSP00000264734.2:n.427+14A>T | |
| ENST00000456423.1:c.325-7450A>T | ENSP00000414136.1:n.325-7450A>T | |
| ENST00000468220.1:n.409+14A>T | ||
| NM_006580.3:c.427+14A>T | NP_006571.1:n.427+14A>T | |
| NM_001378492.1:c.217+14A>T | NP_001365421.1:n.217+14A>T | |
| NM_001378493.1:c.217+14A>T | NP_001365422.1:n.217+14A>T | |
| NM_006580.4:c.217+14A>T MANE Select | NP_006571.2:n.217+14A>T |