Linked Data
ClinVar Variation Id:
437419
dbSNP Id:
rs1178331074
gnomAD v2:
11-102999734-G-A
gnomAD v4:
11-103129005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103129005G>A , CM000673.2:g.103129005G>A | GRCh38 |
| NC_000011.9:g.102999734G>A , CM000673.1:g.102999734G>A | GRCh37 |
| NC_000011.8:g.102504944G>A | NCBI36 |
| NG_016423.1:g.24575G>A | |
| NG_016423.2:g.24575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.1953G>A MANE Plus Clinical | ENSP00000497174.1:p.Lys651= | |
| ENST00000375735.7:c.1953G>A MANE Select | ENSP00000364887.2:p.Lys651= | |
| ENST00000648198.1:c.1953G>A | ENSP00000497329.1:p.Lys651= | |
| ENST00000649323.1:c.1953G>A | ENSP00000497581.1:p.Lys651= | |
| ENST00000650373.1:c.1953G>A | ENSP00000497174.1:p.Lys651= | |
| ENST00000334267.11:c.1953G>A | ENSP00000334021.7:p.Lys651= | |
| ENST00000375735.6:c.1953G>A | ENSP00000364887.2:p.Lys651= | |
| ENST00000398093.7:c.1953G>A | ENSP00000381167.3:p.Lys651= | |
| NM_001080463.1:c.1953G>A | NP_001073932.1:p.Lys651= | |
| NM_001377.2:c.1953G>A | NP_001368.2:p.Lys651= | |
| XM_006718903.2:c.1953G>A | XP_006718966.1:p.Lys651= | |
| XM_017018291.1:c.1953G>A | XP_016873780.1:p.Lys651= | |
| XM_017018292.1:c.1335G>A | XP_016873781.1:p.Lys445= | |
| XM_017018293.1:c.1953G>A | XP_016873782.1:p.Lys651= | |
| NM_001377.3:c.1953G>A MANE Select | NP_001368.2:p.Lys651= | |
| NM_001080463.2:c.1953G>A MANE Plus Clinical | NP_001073932.1:p.Lys651= |