Linked Data
ClinVar Variation Id:
260987
dbSNP Id:
rs4662751
ExAC:
2:128400608 C / T
gnomAD v2:
2-128400608-C-T
gnomAD v3:
2-127643033-C-T
gnomAD v4:
2-127643033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127643033C>T , CM000664.2:g.127643033C>T | GRCh38 |
| NC_000002.11:g.128400608C>T , CM000664.1:g.128400608C>T | GRCh37 |
| NC_000002.10:g.128117078C>T | NCBI36 |
| NG_042235.1:g.43754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.399G>A MANE Select | ENSP00000347240.4:p.Lys133= | |
| ENST00000324938.9:c.471G>A | ENSP00000326888.5:p.Lys157= | |
| ENST00000355119.8:c.399G>A | ENSP00000347240.4:p.Lys133= | |
| ENST00000409254.1:c.-58G>A | ENSP00000386907.1:n.-58G>A | |
| ENST00000409286.5:c.-58G>A | ENSP00000386252.1:n.-58G>A | |
| ENST00000409455.5:c.384G>A | ENSP00000386383.1:p.Lys128= | |
| ENST00000409754.5:c.-58G>A | ENSP00000386345.1:n.-58G>A | |
| ENST00000409808.6:c.384G>A | ENSP00000386637.2:p.Lys128= | |
| ENST00000410011.5:c.384G>A | ENSP00000387002.1:p.Lys128= | |
| ENST00000410038.5:c.-58G>A | ENSP00000386570.1:n.-58G>A | |
| ENST00000413578.5:c.-58G>A | ENSP00000388611.1:n.-58G>A | |
| ENST00000466410.5:n.535G>A | ||
| ENST00000469300.6:n.1417G>A | ||
| ENST00000476932.5:n.787G>A | ||
| ENST00000545738.6:c.465G>A | ENSP00000443794.2:p.Lys155= | |
| ENST00000582671.1:n.346G>A | ||
| ENST00000612860.4:c.123G>A | ENSP00000484949.1:p.Lys41= | |
| NM_001136037.2:c.465G>A | NP_001129509.2:p.Lys155= | |
| NM_001161403.1:c.399G>A | NP_001154875.1:p.Lys133= | |
| NM_001161404.1:c.384G>A | NP_001154876.1:p.Lys128= | |
| NM_001256542.1:c.-58G>A | NP_001243471.1:n.-58G>A | |
| NM_017980.4:c.471G>A | NP_060450.2:p.Lys157= | |
| XM_005263709.2:c.384G>A | XP_005263766.1:p.Lys128= | |
| XM_005263710.2:c.192G>A | XP_005263767.1:p.Lys64= | |
| XM_006712627.2:c.51G>A | XP_006712690.1:p.Lys17= | |
| XM_011511453.1:c.471G>A | XP_011509755.1:p.Lys157= | |
| XR_922961.1:n.535G>A | ||
| XM_006712627.4:c.51G>A | XP_006712690.1:p.Lys17= | |
| XM_024452983.1:c.384G>A | XP_024308751.1:p.Lys128= | |
| XM_024452984.1:c.384G>A | XP_024308752.1:p.Lys128= | |
| XM_024452985.1:c.-58G>A | XP_024308753.1:n.-58G>A | |
| XM_024452986.1:c.-58G>A | XP_024308754.1:n.-58G>A | |
| XR_922961.2:n.535G>A | ||
| NM_001136037.3:c.465G>A | NP_001129509.2:p.Lys155= | |
| NM_001161403.2:c.399G>A | NP_001154875.1:p.Lys133= | |
| NM_001136037.4:c.465G>A | NP_001129509.2:p.Lys155= | |
| NM_001161403.3:c.399G>A MANE Select | NP_001154875.1:p.Lys133= | |
| NM_001161404.2:c.384G>A | NP_001154876.1:p.Lys128= | |
| NM_001256542.2:c.-58G>A | NP_001243471.1:n.-58G>A | |
| NM_017980.5:c.471G>A | NP_060450.2:p.Lys157= |