Linked Data
ClinVar Variation Id:
166843
dbSNP Id:
rs146913105
ExAC:
2:182403834 G / A
gnomAD v2:
2-182403834-G-A
gnomAD v3:
2-181539107-G-A
gnomAD v4:
2-181539107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181539107G>A , CM000664.2:g.181539107G>A | GRCh38 |
| NC_000002.11:g.182403834G>A , CM000664.1:g.182403834G>A | GRCh37 |
| NC_000002.10:g.182112079G>A | NCBI36 |
| NG_021178.1:g.123001C>T | |
| NG_050623.1:g.87216G>A | |
| NG_021178.2:g.123001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.767C>T | ENSP00000508396.1:p.Ser256Leu | |
| ENST00000410087.8:c.1523C>T MANE Select | ENSP00000386725.3:p.Ser508Leu | |
| ENST00000339098.9:c.1601C>T | ENSP00000341159.5:p.Ser534Leu | |
| ENST00000374967.6:c.1459C>T | ENSP00000364106.2:n.1459C>T | |
| ENST00000374969.6:c.1184C>T | ENSP00000364108.2:p.Ser395Leu | |
| ENST00000374970.6:c.1316C>T | ENSP00000364109.2:p.Ser439Leu | |
| ENST00000409440.7:c.1469C>T | ENSP00000387080.3:p.Ser490Leu | |
| ENST00000410087.7:c.1523C>T | ENSP00000386725.3:p.Ser508Leu | |
| ENST00000421817.5:c.*779C>T | ENSP00000411466.1:n.*779C>T | |
| ENST00000452174.5:c.1327C>T | ENSP00000409198.1:n.1327C>T | |
| ENST00000494398.5:n.2315C>T | ||
| NM_001030311.2:c.1601C>T | NP_001025482.1:p.Ser534Leu | |
| NM_001030312.2:c.1184C>T | NP_001025483.1:p.Ser395Leu | |
| NM_001030313.2:c.1316C>T | NP_001025484.1:p.Ser439Leu | |
| NM_001160277.1:c.1469C>T | NP_001153749.1:p.Ser490Leu | |
| NM_201548.4:c.1523C>T | NP_963842.1:p.Ser508Leu | |
| NR_027689.1:n.1428C>T | ||
| NR_027690.1:n.1560C>T | ||
| NM_201548.5:c.1523C>T MANE Select | NP_963842.1:p.Ser508Leu | |
| NM_001030311.3:c.1601C>T | NP_001025482.1:p.Ser534Leu | |
| NM_001030312.3:c.1184C>T | NP_001025483.1:p.Ser395Leu | |
| NM_001030313.3:c.1316C>T | NP_001025484.1:p.Ser439Leu | |
| NM_001160277.2:c.1469C>T | NP_001153749.1:p.Ser490Leu | |
| NR_027689.2:n.1426C>T | ||
| NR_027690.2:n.1558C>T |