Linked Data
ClinVar Variation Id:
392625
dbSNP Id:
rs1057524569
gnomAD v2:
16-23641432-T-C
gnomAD v4:
16-23630111-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23630111T>C , CM000678.2:g.23630111T>C | GRCh38 |
| NC_000016.9:g.23641432T>C , CM000678.1:g.23641432T>C | GRCh37 |
| NC_000016.8:g.23548933T>C | NCBI36 |
| NG_007406.1:g.16247A>G , LRG_308:g.16247A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2049A>G | ENSP00000460666.3:p.Lys683= | |
| ENST00000565038.2:c.212-836A>G | ENSP00000459882.2:n.212-836A>G | |
| ENST00000566069.6:c.2043A>G | ENSP00000459237.2:p.Lys681= | |
| ENST00000697377.2:c.2049A>G | ENSP00000513286.2:p.Lys683= | |
| ENST00000697379.2:c.2049A>G | ENSP00000513287.2:p.Lys683= | |
| ENST00000561514.2:c.1158A>G | ENSP00000460666.2:p.Lys386= | |
| ENST00000697374.1:c.1158A>G | ENSP00000513284.1:p.Lys386= | |
| ENST00000697375.1:n.3390A>G | ||
| ENST00000697376.1:c.1158A>G | ENSP00000513285.1:p.Lys386= | |
| ENST00000697377.1:c.1158A>G | ENSP00000513286.1:p.Lys386= | |
| ENST00000697378.1:n.2563A>G | ||
| ENST00000697379.1:c.1158A>G | ENSP00000513287.1:p.Lys386= | |
| ENST00000697380.1:n.971A>G | ||
| ENST00000697381.1:n.738A>G | ||
| ENST00000697382.1:c.1158A>G | ENSP00000513288.1:p.Lys386= | |
| ENST00000697383.1:c.49-836A>G | ENSP00000513289.1:n.49-836A>G | |
| ENST00000697384.1:n.2197A>G | ||
| ENST00000261584.9:c.2043A>G MANE Select | ENSP00000261584.4:p.Lys681= | |
| ENST00000261584.8:c.2043A>G | ENSP00000261584.4:p.Lys681= | |
| ENST00000565038.1:c.87-836A>G | ||
| ENST00000568219.5:c.1158A>G | ENSP00000454703.2:p.Lys386= | |
| NM_024675.3:c.2043A>G , LRG_308t1:c.2043A>G | NP_078951.2:p.Lys681= | |
| XM_011545946.1:c.2049A>G | XP_011544248.1:p.Lys683= | |
| XM_011545947.1:c.2049A>G | XP_011544249.1:p.Lys683= | |
| XM_011545948.1:c.1158A>G | XP_011544250.1:p.Lys386= | |
| XR_950851.1:n.2839A>G | ||
| XM_011545946.2:c.2049A>G | XP_011544248.1:p.Lys683= | |
| XM_011545947.2:c.2049A>G | XP_011544249.1:p.Lys683= | |
| XM_011545948.2:c.1158A>G | XP_011544250.1:p.Lys386= | |
| XM_017023671.1:c.2049A>G | XP_016879160.1:p.Lys683= | |
| XM_017023672.2:c.2043A>G | XP_016879161.1:p.Lys681= | |
| XM_017023673.2:c.2043A>G | XP_016879162.1:p.Lys681= | |
| NM_024675.4:c.2043A>G MANE Select | NP_078951.2:p.Lys681= |