Linked Data
ClinVar Variation Id:
2977433
ClinVar RCV Id:
RCV003831551
dbSNP Id:
rs762201657
ExAC:
1:85736515 T / C
gnomAD v2:
1-85736515-T-C
gnomAD v3:
1-85270832-T-C
gnomAD v4:
1-85270832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85270832T>C , CM000663.2:g.85270832T>C | GRCh38 |
| NC_000001.10:g.85736515T>C , CM000663.1:g.85736515T>C | GRCh37 |
| NC_000001.9:g.85509103T>C | NCBI36 |
| NG_012216.1:g.12069A>G | |
| NG_012216.2:g.11073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620248.3:c.132A>G | ENSP00000480561.2:p.Lys44= | |
| ENST00000620248.2:c.132A>G | ENSP00000480561.2:p.Lys44= | |
| ENST00000648566.1:c.132A>G MANE Select | ENSP00000498104.1:p.Lys44= | |
| ENST00000649060.1:c.*1241A>G | ENSP00000497490.1:n.*1241A>G | |
| ENST00000649434.1:n.198A>G | ||
| ENST00000650582.1:n.663A>G | ||
| ENST00000370580.5:c.132A>G | ENSP00000359612.1:p.Lys44= | |
| ENST00000620248.1:c.132A>G | ENSP00000480561.1:p.Lys44= | |
| NM_003921.4:c.132A>G | NP_003912.1:p.Lys44= | |
| XM_005271311.2:c.132A>G | XP_005271368.1:p.Lys44= | |
| XM_011542397.1:c.291A>G | XP_011540699.1:p.Lys97= | |
| XM_011542398.1:c.291A>G | XP_011540700.1:p.Lys97= | |
| XM_011542399.1:c.78A>G | XP_011540701.1:p.Lys26= | |
| NM_001320715.1:c.132A>G | NP_001307644.1:p.Lys44= | |
| NM_003921.5:c.132A>G MANE Select | NP_003912.1:p.Lys44= | |
| XM_011542397.3:c.291A>G | XP_011540699.1:p.Lys97= | |
| XM_011542398.2:c.291A>G | XP_011540700.1:p.Lys97= | |
| XM_011542399.2:c.78A>G | XP_011540701.1:p.Lys26= | |
| NM_001320715.2:c.132A>G | NP_001307644.1:p.Lys44= |