Linked Data
dbSNP Id:
rs2075507
gnomAD v2:
22-19928092-G-A
gnomAD v3:
22-19940569-G-A
gnomAD v4:
22-19940569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19940569G>A , CM000684.2:g.19940569G>A | GRCh38 |
| NC_000022.10:g.19928092G>A , CM000684.1:g.19928092G>A | GRCh37 |
| NC_000022.9:g.18308092G>A | NCBI36 |
| NG_011526.1:g.3830G>A | |
| NG_011835.1:g.6268C>T , LRG_417:g.6268C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.103+1132C>T MANE Select | ENSP00000383365.1:n.103+1132C>T | |
| ENST00000334363.14:c.103+1132C>T | ENSP00000334451.9:n.103+1132C>T | |
| ENST00000400519.6:c.103+1132C>T | ENSP00000383363.1:n.103+1132C>T | |
| ENST00000400521.6:c.103+1132C>T | ENSP00000383365.1:n.103+1132C>T | |
| ENST00000400525.6:c.103+1132C>T | ENSP00000383369.3:n.103+1132C>T | |
| ENST00000474308.5:c.103+1132C>T | ENSP00000485665.1:n.103+1132C>T | |
| ENST00000496729.2:n.108+1132C>T | ||
| NM_001282512.1:c.103+1132C>T | NP_001269441.1:n.103+1132C>T | |
| NM_006440.4:c.103+1132C>T | NP_006431.2:n.103+1132C>T | |
| NM_001282512.2:c.103+1132C>T | NP_001269441.1:n.103+1132C>T | |
| NM_001352300.1:c.103+1132C>T | NP_001339229.1:n.103+1132C>T | |
| NR_147957.1:n.292+1132C>T | ||
| NM_006440.5:c.103+1132C>T MANE Select | NP_006431.2:n.103+1132C>T | |
| NM_001282512.3:c.103+1132C>T | NP_001269441.1:n.103+1132C>T | |
| NM_001352300.2:c.103+1132C>T | NP_001339229.1:n.103+1132C>T | |
| NR_147957.2:n.118+1132C>T |