Linked Data
ClinVar Variation Id:
2483837
ClinVar RCV Id:
RCV004272508
dbSNP Id:
rs772084545
gnomAD v4:
9-135624474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135624474T>C , CM000671.2:g.135624474T>C | GRCh38 |
| NC_000009.11:g.138516320T>C , CM000671.1:g.138516320T>C | GRCh37 |
| NC_000009.10:g.137656141T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371763.6:c.454A>G MANE Select | ENSP00000360829.1:p.Lys152Glu | |
| ENST00000371763.5:c.454A>G | ENSP00000360829.1:p.Lys152Glu | |
| ENST00000613244.1:c.454A>G | ENSP00000483037.1:p.Lys152Glu | |
| NM_182974.2:c.454A>G | NP_892019.2:p.Lys152Glu | |
| XM_011518633.1:c.562A>G | XP_011516935.1:p.Lys188Glu | |
| XM_011518634.1:c.562A>G | XP_011516936.1:p.Lys188Glu | |
| XM_011518635.1:c.562A>G | XP_011516937.1:p.Lys188Glu | |
| XM_011518636.1:c.562A>G | XP_011516938.1:p.Lys188Glu | |
| XM_011518637.1:c.454A>G | XP_011516939.1:p.Lys152Glu | |
| XM_011518638.1:c.358A>G | XP_011516940.1:p.Lys120Glu | |
| XM_011518633.2:c.562A>G | XP_011516935.1:p.Lys188Glu | |
| XM_011518634.2:c.562A>G | XP_011516936.1:p.Lys188Glu | |
| XM_011518635.2:c.562A>G | XP_011516937.1:p.Lys188Glu | |
| XM_011518636.2:c.562A>G | XP_011516938.1:p.Lys188Glu | |
| XM_011518637.2:c.454A>G | XP_011516939.1:p.Lys152Glu | |
| XM_011518638.2:c.358A>G | XP_011516940.1:p.Lys120Glu | |
| XM_024447534.1:c.454A>G | XP_024303302.1:p.Lys152Glu | |
| NM_182974.3:c.454A>G MANE Select | NP_892019.2:p.Lys152Glu |