Linked Data
dbSNP Id:
rs545734595
gnomAD v2:
1-209791630-G-A
gnomAD v3:
1-209618285-G-A
gnomAD v4:
1-209618285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209618285G>A , CM000663.2:g.209618285G>A | GRCh38 |
| NC_000001.10:g.209791630G>A , CM000663.1:g.209791630G>A | GRCh37 |
| NC_000001.9:g.207858253G>A | NCBI36 |
| NG_007116.1:g.39191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.2909+167C>T MANE Select | ENSP00000348384.3:n.2909+167C>T | |
| ENST00000356082.8:c.2909+167C>T | ENSP00000348384.3:n.2909+167C>T | |
| ENST00000367030.7:c.2909+167C>T | ENSP00000355997.3:n.2909+167C>T | |
| ENST00000391911.5:c.2909+167C>T | ENSP00000375778.1:n.2909+167C>T | |
| ENST00000455193.1:c.116+167C>T | ENSP00000398683.1:n.116+167C>T | |
| NM_000228.2:c.2909+167C>T | NP_000219.2:n.2909+167C>T | |
| NM_001017402.1:c.2909+167C>T | NP_001017402.1:n.2909+167C>T | |
| NM_001127641.1:c.2909+167C>T | NP_001121113.1:n.2909+167C>T | |
| XM_005273124.3:c.2909+167C>T | XP_005273181.1:n.2909+167C>T | |
| XM_005273124.4:c.2909+167C>T | XP_005273181.1:n.2909+167C>T | |
| XM_017001272.2:c.2717+167C>T | XP_016856761.1:n.2717+167C>T | |
| NM_000228.3:c.2909+167C>T MANE Select | NP_000219.2:n.2909+167C>T | |
| NM_001017402.2:c.2909+167C>T | NP_001017402.1:n.2909+167C>T |