Linked Data
ClinVar Variation Id:
381098
dbSNP Id:
rs1057520957
gnomAD v2:
3-30648456-C-T
gnomAD v4:
3-30606964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606964C>T , CM000665.2:g.30606964C>T | GRCh38 |
| NC_000003.11:g.30648456C>T , CM000665.1:g.30648456C>T | GRCh37 |
| NC_000003.10:g.30623460C>T | NCBI36 |
| NG_007490.1:g.5463C>T , LRG_779:g.5463C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.81C>T MANE Select | ENSP00000295754.5:p.His27= | |
| ENST00000295754.9:c.81C>T | ENSP00000295754.5:p.His27= | |
| ENST00000359013.4:c.81C>T | ENSP00000351905.4:p.His27= | |
| NM_001024847.2:c.81C>T , LRG_779t1:c.81C>T | NP_001020018.1:p.His27= | |
| NM_003242.5:c.81C>T | NP_003233.4:p.His27= | |
| XM_011534045.1:c.-12+371C>T | XP_011532347.1:n.-12+371C>T | |
| XM_011534045.3:c.-12+371C>T | XP_011532347.1:n.-12+371C>T | |
| NM_003242.6:c.81C>T MANE Select | NP_003233.4:p.His27= |