Linked Data
ClinVar Variation Id:
335483
ClinVar RCV Id:
RCV000265448
dbSNP Id:
rs112920456
ExAC:
2:27315266 C / T
gnomAD v2:
2-27315266-C-T
gnomAD v3:
2-27092398-C-T
gnomAD v4:
2-27092398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27092398C>T , CM000664.2:g.27092398C>T | GRCh38 |
| NC_000002.11:g.27315266C>T , CM000664.1:g.27315266C>T | GRCh37 |
| NC_000002.10:g.27168770C>T | NCBI36 |
| NG_012199.1:g.10656C>T | |
| NG_012199.2:g.10656C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260599.11:c.159C>T | ENSP00000260599.6:p.Leu53= | |
| ENST00000429697.2:c.159C>T | ENSP00000404741.2:p.Leu53= | |
| ENST00000260598.10:c.159C>T MANE Select | ENSP00000260598.5:p.Leu53= | |
| ENST00000260598.9:c.159C>T | ENSP00000260598.5:p.Leu53= | |
| ENST00000260599.10:c.159C>T | ENSP00000260599.6:p.Leu53= | |
| ENST00000429697.1:c.159C>T | ENSP00000404741.1:p.Leu53= | |
| ENST00000490823.5:n.507C>T | ||
| NM_000221.2:c.159C>T | NP_000212.1:p.Leu53= | |
| NM_006488.2:c.159C>T | NP_006479.1:p.Leu53= | |
| XM_005264294.2:c.159C>T | XP_005264351.1:p.Leu53= | |
| XM_005264296.2:c.159C>T | XP_005264353.1:p.Leu53= | |
| XM_005264298.2:c.93-4331C>T | XP_005264355.1:n.93-4331C>T | |
| XM_006712008.2:c.159C>T | XP_006712071.1:p.Leu53= | |
| XM_006712009.2:c.159C>T | XP_006712072.1:p.Leu53= | |
| XM_006712010.2:c.159C>T | XP_006712073.1:p.Leu53= | |
| XM_006712011.2:c.159C>T | XP_006712074.1:p.Leu53= | |
| XM_006712012.2:c.159C>T | XP_006712075.1:p.Leu53= | |
| XM_006712013.2:c.159C>T | XP_006712076.1:p.Leu53= | |
| XM_006712014.2:c.93-4331C>T | XP_006712077.1:n.93-4331C>T | |
| XM_005264294.4:c.159C>T | XP_005264351.1:p.Leu53= | |
| XM_005264296.4:c.159C>T | XP_005264353.1:p.Leu53= | |
| XM_005264298.4:c.93-4331C>T | XP_005264355.1:n.93-4331C>T | |
| XM_006712008.4:c.159C>T | XP_006712071.1:p.Leu53= | |
| XM_006712009.4:c.159C>T | XP_006712072.1:p.Leu53= | |
| XM_006712010.4:c.159C>T | XP_006712073.1:p.Leu53= | |
| XM_006712011.4:c.159C>T | XP_006712074.1:p.Leu53= | |
| XM_006712012.4:c.159C>T | XP_006712075.1:p.Leu53= | |
| XM_006712013.4:c.159C>T | XP_006712076.1:p.Leu53= | |
| XM_006712014.4:c.93-4331C>T | XP_006712077.1:n.93-4331C>T | |
| XM_017004060.2:c.159C>T | XP_016859549.1:p.Leu53= | |
| XM_017004061.2:c.159C>T | XP_016859550.1:p.Leu53= | |
| NM_006488.3:c.159C>T MANE Select | NP_006479.1:p.Leu53= | |
| NM_000221.3:c.159C>T | NP_000212.1:p.Leu53= |