Linked Data
ClinVar Variation Id:
2099146
ClinVar RCV Id:
RCV003021570
dbSNP Id:
rs1473339589
gnomAD v4:
19-12891523-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12891523G>T , CM000681.2:g.12891523G>T | GRCh38 |
| NC_000019.9:g.13002337G>T , CM000681.1:g.13002337G>T | GRCh37 |
| NC_000019.8:g.12863337G>T | NCBI36 |
| NG_009292.1:g.5364G>T | |
| NG_013087.1:g.681C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.127+1G>T MANE Select | ENSP00000222214.4:n.127+1G>T | |
| ENST00000222214.9:c.127+1G>T | ENSP00000222214.4:n.127+1G>T | |
| ENST00000421816.6:n.168+128G>T | ||
| ENST00000585420.5:n.185G>T | ||
| ENST00000585760.5:n.163+1G>T | ||
| ENST00000587072.1:c.127+1G>T | ENSP00000468584.1:n.127+1G>T | |
| ENST00000587832.5:n.184+1G>T | ||
| ENST00000588905.5:c.91+128G>T | ENSP00000465770.1:n.91+128G>T | |
| ENST00000589039.5:c.127+1G>T | ENSP00000465618.1:n.127+1G>T | |
| ENST00000590445.5:c.128G>T | ENSP00000468125.1:p.Cys43Phe | |
| ENST00000590530.5:c.127+1G>T | ENSP00000468452.1:n.127+1G>T | |
| ENST00000590627.5:n.185G>T | ||
| ENST00000591043.1:n.163+1G>T | ||
| ENST00000591470.5:c.127+1G>T | ENSP00000466845.1:n.127+1G>T | |
| NM_000159.3:c.127+1G>T | NP_000150.1:n.127+1G>T | |
| NM_013976.3:c.127+1G>T | NP_039663.1:n.127+1G>T | |
| NR_102316.1:n.235+1G>T | ||
| NR_102317.1:n.236G>T | ||
| XM_006722721.2:c.127+1G>T | XP_006722784.1:n.127+1G>T | |
| XM_011527899.1:c.127+1G>T | XP_011526201.1:n.127+1G>T | |
| XM_011527900.1:c.127+1G>T | XP_011526202.1:n.127+1G>T | |
| XM_011527899.2:c.127+1G>T | XP_011526201.1:n.127+1G>T | |
| XM_011527900.2:c.127+1G>T | XP_011526202.1:n.127+1G>T | |
| XM_017026580.1:c.127+1G>T | XP_016882069.1:n.127+1G>T | |
| NM_000159.4:c.127+1G>T MANE Select | NP_000150.1:n.127+1G>T | |
| NM_013976.4:c.127+1G>T | NP_039663.1:n.127+1G>T | |
| NM_013976.5:c.127+1G>T | NP_039663.1:n.127+1G>T |