Linked Data
ClinVar Variation Id:
1730181
ClinVar RCV Id:
RCV002326368
dbSNP Id:
rs1464757433
gnomAD v2:
3-142281107-A-G
gnomAD v3:
3-142562265-A-G
gnomAD v4:
3-142562265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562265A>G , CM000665.2:g.142562265A>G | GRCh38 |
| NC_000003.11:g.142281107A>G , CM000665.1:g.142281107A>G | GRCh37 |
| NC_000003.10:g.143763797A>G | NCBI36 |
| NG_008951.1:g.21562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.1137T>C MANE Select | ENSP00000343741.4:p.Leu379= | |
| ENST00000515149.3:c.293-844T>C | ENSP00000425897.3:n.293-844T>C | |
| ENST00000653868.1:n.1166T>C | ||
| ENST00000657914.1:n.3495T>C | ||
| ENST00000659195.1:n.3202T>C | ||
| ENST00000661310.1:c.1137T>C | ENSP00000499589.1:p.Leu379= | |
| ENST00000350721.8:c.1137T>C | ENSP00000343741.4:p.Leu379= | |
| ENST00000507148.1:c.*73T>C | ENSP00000426595.1:n.*73T>C | |
| ENST00000515149.2:c.180T>C | ENSP00000425897.2:p.Leu60= | |
| NM_001184.3:c.1137T>C | NP_001175.2:p.Leu379= | |
| XM_011512924.1:c.1137T>C | XP_011511226.1:p.Leu379= | |
| XM_011512925.1:c.1137T>C | XP_011511227.1:p.Leu379= | |
| XM_011512926.1:c.1137T>C | XP_011511228.1:p.Leu379= | |
| XM_011512927.1:c.1137T>C | XP_011511229.1:p.Leu379= | |
| XR_924147.1:n.1226T>C | ||
| XR_924148.1:n.1226T>C | ||
| XR_924149.1:n.1226T>C | ||
| NM_001354579.1:c.1137T>C | NP_001341508.1:p.Leu379= | |
| XR_001740179.2:n.1226T>C | ||
| XR_001740180.2:n.1226T>C | ||
| XR_001740181.2:n.1226T>C | ||
| XR_001740182.1:n.1226T>C | ||
| XR_002959543.1:n.1226T>C | ||
| XR_924148.2:n.1226T>C | ||
| NM_001184.4:c.1137T>C MANE Select | NP_001175.2:p.Leu379= | |
| NM_001354579.2:c.1137T>C | NP_001341508.1:p.Leu379= |