Linked Data
dbSNP Id:
rs1387543268
gnomAD v2:
13-21280093-C-T
gnomAD v3:
13-20705954-C-T
gnomAD v4:
13-20705954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20705954C>T , CM000675.2:g.20705954C>T | GRCh38 |
| NC_000013.10:g.21280093C>T , CM000675.1:g.21280093C>T | GRCh37 |
| NC_000013.9:g.20178093C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682841.1:c.290+1663C>T MANE Select | ENSP00000508385.1:n.290+1663C>T | |
| ENST00000304920.3:c.290+1663C>T | ENSP00000302924.3:n.290+1663C>T | |
| ENST00000468605.1:c.213+1663C>T | ||
| NM_138284.1:c.290+1663C>T | NP_612141.1:n.290+1663C>T | |
| XM_005266421.2:c.311+1663C>T | XP_005266478.1:n.311+1663C>T | |
| XM_011535116.1:c.311+1663C>T | XP_011533418.1:n.311+1663C>T | |
| XM_005266421.4:c.311+1663C>T | XP_005266478.1:n.311+1663C>T | |
| NM_001385221.1:c.311+1663C>T | NP_001372150.1:n.311+1663C>T | |
| NM_001385222.1:c.311+1663C>T | NP_001372151.1:n.311+1663C>T | |
| NM_001385223.1:c.290+1663C>T | NP_001372152.1:n.290+1663C>T | |
| NM_001385224.1:c.290+1663C>T MANE Select | NP_001372153.1:n.290+1663C>T | |
| NM_001385225.1:c.38+4299C>T | NP_001372154.1:n.38+4299C>T | |
| NM_138284.2:c.290+1663C>T | NP_612141.1:n.290+1663C>T | |
| NR_169590.1:n.229+2634C>T | ||
| NR_169591.1:n.581+1663C>T |