Linked Data
dbSNP Id:
rs823128
gnomAD v2:
1-205713378-G-A
gnomAD v3:
1-205744250-G-A
gnomAD v4:
1-205744250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205744250G>A , CM000663.2:g.205744250G>A | GRCh38 |
| NC_000001.10:g.205713378G>A , CM000663.1:g.205713378G>A | GRCh37 |
| NC_000001.9:g.203980001G>A | NCBI36 |
| NG_027548.1:g.10995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367142.5:c.17+5707C>T MANE Select | ENSP00000356110.4:n.17+5707C>T | |
| ENST00000367142.4:c.17+5707C>T | ENSP00000356110.4:n.17+5707C>T | |
| NM_022731.4:c.17+5707C>T | NP_073568.2:n.17+5707C>T | |
| XM_005245453.1:c.17+5707C>T | XP_005245510.1:n.17+5707C>T | |
| NM_022731.5:c.17+5707C>T MANE Select | NP_073568.2:n.17+5707C>T |