Linked Data
dbSNP Id:
rs752326679
ExAC:
2:215656982 C / T
gnomAD v2:
2-215656982-C-T
gnomAD v4:
2-214792258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792258C>T , CM000664.2:g.214792258C>T | GRCh38 |
| NC_000002.11:g.215656982C>T , CM000664.1:g.215656982C>T | GRCh37 |
| NC_000002.10:g.215365227C>T | NCBI36 |
| NG_012047.2:g.22447G>A | |
| NG_012047.3:g.22454G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.364+39G>A MANE Select | ENSP00000260947.4:n.364+39G>A | |
| ENST00000421162.2:c.215+4803G>A | ENSP00000392245.2:n.215+4803G>A | |
| ENST00000613192.2:c.158+17154G>A | ENSP00000483275.2:n.158+17154G>A | |
| ENST00000613374.5:c.158+17154G>A | ENSP00000484464.1:n.158+17154G>A | |
| ENST00000613706.5:c.364+39G>A | ENSP00000484976.2:n.364+39G>A | |
| ENST00000617164.5:c.307+39G>A | ENSP00000480470.1:n.307+39G>A | |
| ENST00000619009.5:c.364+39G>A | ENSP00000482293.1:n.364+39G>A | |
| ENST00000650978.1:c.206+39G>A | ||
| ENST00000260947.8:c.364+39G>A | ENSP00000260947.4:n.364+39G>A | |
| ENST00000421162.1:c.215+4803G>A | ENSP00000392245.1:n.215+4803G>A | |
| ENST00000455743.5:c.215+4803G>A | ENSP00000412186.1:n.215+4803G>A | |
| ENST00000471787.1:n.260-10749G>A | ||
| ENST00000613192.1:c.73+17154G>A | ENSP00000483275.1:n.73+17154G>A | |
| ENST00000613374.4:c.158+17154G>A | ENSP00000484464.1:n.158+17154G>A | |
| ENST00000613706.4:c.215+4803G>A | ENSP00000484976.1:n.215+4803G>A | |
| ENST00000617164.4:c.307+39G>A | ENSP00000480470.1:n.307+39G>A | |
| ENST00000619009.4:c.364+39G>A | ENSP00000482293.1:n.364+39G>A | |
| ENST00000620057.4:c.364+39G>A | ENSP00000481988.1:n.364+39G>A | |
| NM_000465.3:c.364+39G>A | NP_000456.2:n.364+39G>A | |
| NM_001282543.1:c.307+39G>A | NP_001269472.1:n.307+39G>A | |
| NM_001282545.1:c.215+4803G>A | NP_001269474.1:n.215+4803G>A | |
| NM_001282548.1:c.158+17154G>A | NP_001269477.1:n.158+17154G>A | |
| NM_001282549.1:c.364+39G>A | NP_001269478.1:n.364+39G>A | |
| NR_104212.1:n.357+4803G>A | ||
| NR_104215.1:n.301-10749G>A | ||
| NR_104216.1:n.506+39G>A | ||
| XM_011511567.1:c.310+39G>A | XP_011509869.1:n.310+39G>A | |
| XM_011511568.1:c.364+39G>A | XP_011509870.1:n.364+39G>A | |
| XM_017004613.1:c.463+39G>A | XP_016860102.1:n.463+39G>A | |
| XM_017004614.1:c.463+39G>A | XP_016860103.1:n.463+39G>A | |
| XR_002959322.1:n.554+39G>A | ||
| NM_000465.4:c.364+39G>A MANE Select | NP_000456.2:n.364+39G>A | |
| NM_001282543.2:c.307+39G>A | NP_001269472.1:n.307+39G>A | |
| NM_001282545.2:c.215+4803G>A | NP_001269474.1:n.215+4803G>A | |
| NM_001282548.2:c.158+17154G>A | NP_001269477.1:n.158+17154G>A | |
| NM_001282549.2:c.364+39G>A | NP_001269478.1:n.364+39G>A | |
| NR_104212.2:n.329+4803G>A | ||
| NR_104215.2:n.273-10749G>A | ||
| NR_104216.2:n.478+39G>A |