Linked Data
ClinVar Variation Id:
1433900
ClinVar RCV Id:
RCV001960204
dbSNP Id:
rs754205211
ExAC:
6:33132241 C / T
gnomAD v2:
6-33132241-C-T
gnomAD v3:
6-33164464-C-T
gnomAD v4:
6-33164464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164464C>T , CM000668.2:g.33164464C>T | GRCh38 |
| NC_000006.11:g.33132241C>T , CM000668.1:g.33132241C>T | GRCh37 |
| NC_000006.10:g.33240219C>T | NCBI36 |
| NG_011589.1:g.33005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.679G>A | ||
| ENST00000341947.7:c.4873G>A MANE Select | ENSP00000339915.2:p.Val1625Met | |
| ENST00000341947.6:c.4873G>A | ENSP00000339915.2:p.Val1625Met | |
| ENST00000361917.5:c.4552G>A | ENSP00000355123.1:p.Val1518Met | |
| ENST00000374708.8:c.4615G>A | ENSP00000363840.4:p.Val1539Met | |
| ENST00000477772.1:n.663G>A | ||
| NM_080679.2:c.4552G>A | NP_542410.2:p.Val1518Met | |
| NM_080680.2:c.4873G>A | NP_542411.2:p.Val1625Met | |
| NM_080681.2:c.4615G>A | NP_542412.2:p.Val1539Met | |
| XM_011514298.1:c.4027G>A | XP_011512600.1:p.Val1343Met | |
| XM_011514299.1:c.4159G>A | XP_011512601.1:p.Val1387Met | |
| XM_011514300.1:c.3979G>A | XP_011512602.1:p.Val1327Met | |
| XM_011514301.1:c.3916G>A | XP_011512603.1:p.Val1306Met | |
| XM_011514302.1:c.3760G>A | XP_011512604.1:p.Val1254Met | |
| XM_011514299.2:c.4159G>A | XP_011512601.1:p.Val1387Met | |
| XM_011514300.2:c.3979G>A | XP_011512602.1:p.Val1327Met | |
| XM_011514302.2:c.3760G>A | XP_011512604.1:p.Val1254Met | |
| XM_017010250.1:c.4873G>A | XP_016865739.1:p.Val1625Met | |
| XM_017010251.2:c.3691G>A | XP_016865740.1:p.Val1231Met | |
| NM_080680.3:c.4873G>A MANE Select | NP_542411.2:p.Val1625Met | |
| NM_080681.3:c.4615G>A | NP_542412.2:p.Val1539Met | |
| NM_080679.3:c.4552G>A | NP_542410.2:p.Val1518Met |