Linked Data
ClinVar Variation Id:
9454
ClinVar RCV Id:
RCV003555994
dbSNP Id:
rs80338748
gnomAD v4:
2-169201627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169201627C>T , CM000664.2:g.169201627C>T | GRCh38 |
| NC_000002.11:g.170058137C>T , CM000664.1:g.170058137C>T | GRCh37 |
| NC_000002.10:g.169766383C>T | NCBI36 |
| NG_012634.1:g.165986G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649046.1:c.8452+1G>A MANE Select | ENSP00000496870.1:n.8452+1G>A | |
| ENST00000263816.7:c.8452+1G>A | ENSP00000263816.3:n.8452+1G>A | |
| NM_004525.2:c.8452+1G>A | NP_004516.2:n.8452+1G>A | |
| XM_011511183.1:c.8452+1G>A | XP_011509485.1:n.8452+1G>A | |
| XM_011511184.1:c.6163+1G>A | XP_011509486.1:n.6163+1G>A | |
| XM_011511185.1:c.8452+1G>A | XP_011509487.1:n.8452+1G>A | |
| NM_004525.3:c.8452+1G>A MANE Select | NP_004516.2:n.8452+1G>A | |
| XM_011511183.3:c.8452+1G>A | XP_011509485.1:n.8452+1G>A | |
| XM_011511184.2:c.6163+1G>A | XP_011509486.1:n.6163+1G>A |