Linked Data
dbSNP Id:
rs736926
gnomAD v2:
19-801381-C-T
gnomAD v3:
19-801381-C-T
gnomAD v4:
19-801381-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.801381C>T , CM000681.2:g.801381C>T | GRCh38 |
| NC_000019.9:g.801381C>T , CM000681.1:g.801381C>T | GRCh37 |
| NC_000019.8:g.752381C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356948.11:c.39+1938C>T MANE Select | ENSP00000349428.4:n.39+1938C>T | |
| ENST00000592804.2:n.139+1938C>T | ||
| ENST00000676227.1:c.39+1938C>T | ENSP00000501551.1:n.39+1938C>T | |
| ENST00000677277.1:c.39+1938C>T | ENSP00000504032.1:n.39+1938C>T | |
| ENST00000679114.1:c.45+1938C>T | ENSP00000504829.1:n.45+1938C>T | |
| ENST00000349038.8:c.39+1938C>T | ENSP00000014112.5:n.39+1938C>T | |
| ENST00000350092.8:c.-52+1938C>T | ENSP00000342332.5:n.-52+1938C>T | |
| ENST00000356948.10:c.39+1938C>T | ENSP00000349428.4:n.39+1938C>T | |
| ENST00000394601.8:c.39+1938C>T | ENSP00000408096.1:n.39+1938C>T | |
| ENST00000586481.5:c.-51-2180C>T | ENSP00000468565.3:n.-51-2180C>T | |
| ENST00000586944.5:n.109+1938C>T | ||
| ENST00000587094.2:c.45+1938C>T | ENSP00000465825.1:n.45+1938C>T | |
| ENST00000587191.3:c.-66+1938C>T | ENSP00000478974.1:n.-66+1938C>T | |
| ENST00000589575.5:c.39+1938C>T | ENSP00000465652.2:n.39+1938C>T | |
| ENST00000590887.5:n.112+1938C>T | ||
| ENST00000627714.2:c.39+1938C>T | ENSP00000486218.1:n.39+1938C>T | |
| ENST00000635647.1:c.39+1938C>T | ENSP00000489604.1:n.39+1938C>T | |
| NM_002819.4:c.39+1938C>T | NP_002810.1:n.39+1938C>T | |
| NM_031990.3:c.39+1938C>T | NP_114367.1:n.39+1938C>T | |
| NM_031991.3:c.39+1938C>T | NP_114368.1:n.39+1938C>T | |
| XM_005259597.2:c.45+1938C>T | XP_005259654.1:n.45+1938C>T | |
| XM_005259598.2:c.45+1938C>T | XP_005259655.1:n.45+1938C>T | |
| XR_244034.2:n.648+1938C>T | ||
| XR_244035.2:n.648+1938C>T | ||
| NM_002819.5:c.39+1938C>T MANE Select | NP_002810.1:n.39+1938C>T | |
| NM_031990.4:c.39+1938C>T | NP_114367.1:n.39+1938C>T | |
| NM_031991.4:c.39+1938C>T | NP_114368.1:n.39+1938C>T |