Linked Data
ClinVar Variation Id:
2267557
ClinVar RCV Id:
RCV002804188
dbSNP Id:
rs1768884016
gnomAD v4:
6-33164878-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164878C>A , CM000668.2:g.33164878C>A | GRCh38 |
| NC_000006.11:g.33132655C>A , CM000668.1:g.33132655C>A | GRCh37 |
| NC_000006.10:g.33240633C>A | NCBI36 |
| NG_011589.1:g.32591G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.643G>T | ||
| ENST00000341947.7:c.4837G>T MANE Select | ENSP00000339915.2:p.Val1613Leu | |
| ENST00000341947.6:c.4837G>T | ENSP00000339915.2:p.Val1613Leu | |
| ENST00000361917.5:c.4516G>T | ENSP00000355123.1:p.Val1506Leu | |
| ENST00000374708.8:c.4579G>T | ENSP00000363840.4:p.Val1527Leu | |
| ENST00000477772.1:n.627G>T | ||
| NM_080679.2:c.4516G>T | NP_542410.2:p.Val1506Leu | |
| NM_080680.2:c.4837G>T | NP_542411.2:p.Val1613Leu | |
| NM_080681.2:c.4579G>T | NP_542412.2:p.Val1527Leu | |
| XM_011514298.1:c.3991G>T | XP_011512600.1:p.Val1331Leu | |
| XM_011514299.1:c.4123G>T | XP_011512601.1:p.Val1375Leu | |
| XM_011514300.1:c.3943G>T | XP_011512602.1:p.Val1315Leu | |
| XM_011514301.1:c.3880G>T | XP_011512603.1:p.Val1294Leu | |
| XM_011514302.1:c.3724G>T | XP_011512604.1:p.Val1242Leu | |
| XM_011514299.2:c.4123G>T | XP_011512601.1:p.Val1375Leu | |
| XM_011514300.2:c.3943G>T | XP_011512602.1:p.Val1315Leu | |
| XM_011514302.2:c.3724G>T | XP_011512604.1:p.Val1242Leu | |
| XM_017010250.1:c.4837G>T | XP_016865739.1:p.Val1613Leu | |
| XM_017010251.2:c.3655G>T | XP_016865740.1:p.Val1219Leu | |
| NM_080680.3:c.4837G>T MANE Select | NP_542411.2:p.Val1613Leu | |
| NM_080681.3:c.4579G>T | NP_542412.2:p.Val1527Leu | |
| NM_080679.3:c.4516G>T | NP_542410.2:p.Val1506Leu |