Linked Data
ClinVar Variation Id:
212552
dbSNP Id:
rs114172780
ExAC:
9:2644829 C / T
gnomAD v2:
9-2644829-C-T
gnomAD v3:
9-2644829-C-T
gnomAD v4:
9-2644829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2644829C>T , CM000671.2:g.2644829C>T | GRCh38 |
| NC_000009.11:g.2644829C>T , CM000671.1:g.2644829C>T | GRCh37 |
| NC_000009.10:g.2634829C>T | NCBI36 |
| NG_012741.1:g.28037C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382099.3:c.720C>T | ||
| ENST00000382100.8:c.1162C>T MANE Select | ENSP00000371532.2:p.Leu388= | |
| ENST00000478776.2:n.504C>T | ||
| ENST00000679718.1:n.295C>T | ||
| ENST00000679750.1:n.475C>T | ||
| ENST00000679851.1:n.1243C>T | ||
| ENST00000680021.1:n.1362C>T | ||
| ENST00000680043.1:c.714C>T | ||
| ENST00000680150.1:n.342C>T | ||
| ENST00000680219.1:c.714C>T | ||
| ENST00000680243.1:c.*941C>T | ENSP00000505911.1:n.*941C>T | |
| ENST00000680296.1:c.714C>T | ||
| ENST00000680332.1:n.142C>T | ||
| ENST00000680746.1:c.1039C>T | ENSP00000505030.1:p.Leu347= | |
| ENST00000680751.1:n.464C>T | ||
| ENST00000680891.1:c.*954C>T | ENSP00000505167.1:n.*954C>T | |
| ENST00000680975.1:n.444C>T | ||
| ENST00000681087.1:n.504C>T | ||
| ENST00000681306.1:c.1162C>T | ENSP00000506072.1:p.Leu388= | |
| ENST00000681618.1:c.1039C>T | ENSP00000505773.1:p.Leu347= | |
| ENST00000681644.1:c.*834C>T | ENSP00000505180.1:n.*834C>T | |
| ENST00000681806.1:c.1162C>T | ENSP00000505282.1:p.Leu388= | |
| ENST00000681942.1:c.714C>T | ||
| ENST00000382099.2:c.1162C>T | ENSP00000371531.2:p.Leu388= | |
| ENST00000382100.7:c.1162C>T | ENSP00000371532.2:p.Leu388= | |
| NM_001018056.1:c.1162C>T | NP_001018066.1:p.Leu388= | |
| NM_003383.3:c.1162C>T | NP_003374.3:p.Leu388= | |
| XM_011518029.1:c.1039C>T | XP_011516331.1:p.Leu347= | |
| NM_001018056.2:c.1162C>T | NP_001018066.1:p.Leu388= | |
| NM_001322225.1:c.1039C>T | NP_001309154.1:p.Leu347= | |
| NM_001322226.1:c.1039C>T | NP_001309155.1:p.Leu347= | |
| NM_003383.4:c.1162C>T | NP_003374.3:p.Leu388= | |
| XR_001746373.2:n.1566C>T | ||
| XR_002956805.1:n.1566C>T | ||
| NM_003383.5:c.1162C>T MANE Select | NP_003374.3:p.Leu388= | |
| NM_001018056.3:c.1162C>T | NP_001018066.1:p.Leu388= | |
| NM_001322225.2:c.1039C>T | NP_001309154.1:p.Leu347= | |
| NM_001322226.2:c.1039C>T | NP_001309155.1:p.Leu347= |