Linked Data
ClinVar Variation Id:
2714599
ClinVar RCV Id:
RCV003526654
dbSNP Id:
rs1449112570
gnomAD v2:
22-17566074-C-T
gnomAD v3:
22-17085184-C-T
gnomAD v4:
22-17085184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085184C>T , CM000684.2:g.17085184C>T | GRCh38 |
| NC_000022.10:g.17566074C>T , CM000684.1:g.17566074C>T | GRCh37 |
| NC_000022.9:g.15946074C>T | NCBI36 |
| NG_028257.1:g.5224C>T , LRG_355:g.5224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.93C>T | ENSP00000479970.1:p.Ala31= | |
| ENST00000694948.1:n.191C>T | ||
| ENST00000694949.1:n.188C>T | ||
| ENST00000694950.1:c.173C>T | ||
| ENST00000319363.11:c.93C>T MANE Select | ENSP00000320936.6:p.Ala31= | |
| ENST00000319363.10:c.93C>T | ENSP00000320936.6:p.Ala31= | |
| ENST00000459971.1:n.128C>T | ||
| ENST00000477874.1:n.231C>T | ||
| ENST00000612619.1:c.93C>T | ENSP00000479970.1:p.Ala31= | |
| NM_001289905.1:c.93C>T | NP_001276834.1:p.Ala31= | |
| NM_014339.6:c.93C>T , LRG_355t1:c.93C>T | NP_055154.3:p.Ala31= | |
| NM_014339.7:c.93C>T MANE Select | NP_055154.3:p.Ala31= | |
| NM_001289905.2:c.93C>T | NP_001276834.1:p.Ala31= |