Linked Data
dbSNP Id:
rs5743899
gnomAD v2:
11-1323564-C-T
gnomAD v3:
11-1302334-C-T
gnomAD v4:
11-1302334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1302334C>T , CM000673.2:g.1302334C>T | GRCh38 |
| NC_000011.9:g.1323564C>T , CM000673.1:g.1323564C>T | GRCh37 |
| NC_000011.8:g.1280140C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317204.11:c.34-6540G>A MANE Select | ENSP00000314733.5:n.34-6540G>A | |
| ENST00000263646.11:c.13-6603G>A | ENSP00000263646.6:n.13-6603G>A | |
| ENST00000317204.10:c.34-6540G>A | ENSP00000314733.5:n.34-6540G>A | |
| ENST00000525159.5:c.34-6540G>A | ENSP00000432668.1:n.34-6540G>A | |
| ENST00000527085.1:n.180-3770G>A | ||
| ENST00000527638.1:n.133-6540G>A | ||
| ENST00000527746.5:n.126-6540G>A | ||
| ENST00000527886.5:c.-175+250G>A | ENSP00000434035.1:n.-175+250G>A | |
| ENST00000527938.5:c.34-6540G>A | ENSP00000432778.1:n.34-6540G>A | |
| ENST00000530506.5:c.33+7132G>A | ENSP00000436393.1:n.33+7132G>A | |
| ENST00000530541.1:c.33+7132G>A | ENSP00000434494.1:n.33+7132G>A | |
| ENST00000530821.1:n.372+3489G>A | ||
| ENST00000532551.1:n.159-6540G>A | ||
| NM_019009.3:c.34-6540G>A | NP_061882.2:n.34-6540G>A | |
| XM_011520192.1:c.-175+250G>A | XP_011518494.1:n.-175+250G>A | |
| XR_930968.1:n.241G>A | ||
| NM_001318512.1:c.33+7132G>A | NP_001305441.1:n.33+7132G>A | |
| NM_001318514.1:c.-175+250G>A | NP_001305443.1:n.-175+250G>A | |
| NM_001318515.1:c.34-6540G>A | NP_001305444.1:n.34-6540G>A | |
| NM_001318516.1:c.34-6540G>A | NP_001305445.1:n.34-6540G>A | |
| XR_001747910.2:n.159-6540G>A | ||
| XR_930968.2:n.243G>A | ||
| NM_019009.4:c.34-6540G>A MANE Select | NP_061882.2:n.34-6540G>A | |
| NM_001318512.2:c.33+7132G>A | NP_001305441.1:n.33+7132G>A | |
| NM_001318515.2:c.34-6540G>A | NP_001305444.1:n.34-6540G>A | |
| NM_001318516.2:c.34-6540G>A | NP_001305445.1:n.34-6540G>A | |
| NM_001318514.2:c.-175+250G>A | NP_001305443.1:n.-175+250G>A |