Linked Data
dbSNP Id:
rs8102358
ExAC:
19:39735012 G / A
gnomAD v2:
19-39735012-G-A
gnomAD v3:
19-39244372-G-A
gnomAD v4:
19-39244372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39244372G>A , CM000681.2:g.39244372G>A | GRCh38 |
| NC_000019.9:g.39735012G>A , CM000681.1:g.39735012G>A | GRCh37 |
| NC_000019.8:g.44426852G>A | NCBI36 |
| NG_042193.1:g.5600C>T | |
| NG_055295.1:g.9485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.270+45C>T | ENSP00000481633.1:n.270+45C>T | |
| ENST00000413851.3:c.258+45C>T MANE Select | ENSP00000409000.2:n.258+45C>T | |
| ENST00000413851.2:c.258+45C>T | ENSP00000409000.2:n.258+45C>T | |
| ENST00000613087.4:c.270+45C>T | ENSP00000481633.1:n.270+45C>T | |
| NM_172139.2:c.258+45C>T | NP_742151.2:n.258+45C>T | |
| XM_005258765.3:c.270+45C>T | XP_005258822.1:n.270+45C>T | |
| XM_011526757.1:c.270+45C>T | XP_011525059.1:n.270+45C>T | |
| NM_001346937.1:c.270+45C>T | NP_001333866.1:n.270+45C>T | |
| NM_172139.3:c.258+45C>T | NP_742151.2:n.258+45C>T | |
| NM_172139.4:c.258+45C>T MANE Select | NP_742151.2:n.258+45C>T | |
| NM_001346937.2:c.270+45C>T | NP_001333866.1:n.270+45C>T |