Linked Data
dbSNP Id:
rs1281271662
gnomAD v2:
20-17479447-G-A
gnomAD v3:
20-17498802-G-A
gnomAD v4:
20-17498802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17498802G>A , CM000682.2:g.17498802G>A | GRCh38 |
| NC_000020.10:g.17479447G>A , CM000682.1:g.17479447G>A | GRCh37 |
| NC_000020.9:g.17427447G>A | NCBI36 |
| NG_012423.2:g.75419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.956+18C>T MANE Select | ENSP00000367104.3:n.956+18C>T | |
| ENST00000536626.7:c.539+18C>T | ENSP00000442522.1:n.539+18C>T | |
| ENST00000377868.6:c.581+18C>T | ENSP00000367099.2:n.581+18C>T | |
| ENST00000377873.7:c.956+18C>T | ENSP00000367104.3:n.956+18C>T | |
| ENST00000536626.5:c.539+18C>T | ENSP00000442522.1:n.539+18C>T | |
| NM_001161705.1:c.581+18C>T | NP_001155177.1:n.581+18C>T | |
| NM_001195.4:c.956+18C>T | NP_001186.1:n.956+18C>T | |
| NM_001278606.1:c.539+18C>T | NP_001265535.1:n.539+18C>T | |
| NM_001278607.1:c.623+18C>T | NP_001265536.1:n.623+18C>T | |
| NM_001278608.1:c.539+18C>T | NP_001265537.1:n.539+18C>T | |
| XM_011529312.1:c.539+18C>T | XP_011527614.1:n.539+18C>T | |
| XM_017028005.2:c.848+18C>T | XP_016883494.1:n.848+18C>T | |
| NM_001195.5:c.956+18C>T MANE Select | NP_001186.1:n.956+18C>T | |
| NM_001161705.2:c.581+18C>T | NP_001155177.1:n.581+18C>T | |
| NM_001278606.2:c.539+18C>T | NP_001265535.1:n.539+18C>T | |
| NM_001278607.2:c.623+18C>T | NP_001265536.1:n.623+18C>T | |
| NM_001278608.2:c.539+18C>T | NP_001265537.1:n.539+18C>T |