Linked Data
ClinVar Variation Id:
242437
ClinVar RCV Id:
RCV000652653
dbSNP Id:
rs768056213
ExAC:
2:128412067 G / A
gnomAD v2:
2-128412067-G-A
gnomAD v3:
2-127654493-G-A
gnomAD v4:
2-127654493-G-A
COSMIC:
COSM4186278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127654493G>A , CM000664.2:g.127654493G>A | GRCh38 |
| NC_000002.11:g.128412067G>A , CM000664.1:g.128412067G>A | GRCh37 |
| NC_000002.10:g.128128537G>A | NCBI36 |
| NG_042235.1:g.32294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.290C>T MANE Select | ENSP00000347240.4:p.Pro97Leu | |
| ENST00000324938.9:c.362C>T | ENSP00000326888.5:p.Pro121Leu | |
| ENST00000355119.8:c.290C>T | ENSP00000347240.4:p.Pro97Leu | |
| ENST00000409455.5:c.275C>T | ENSP00000386383.1:p.Pro92Leu | |
| ENST00000409808.6:c.275C>T | ENSP00000386637.2:p.Pro92Leu | |
| ENST00000410011.5:c.275C>T | ENSP00000387002.1:p.Pro92Leu | |
| ENST00000466410.5:n.426C>T | ||
| ENST00000469300.6:n.1308C>T | ||
| ENST00000476932.5:n.678C>T | ||
| ENST00000545738.6:c.356C>T | ENSP00000443794.2:p.Pro119Leu | |
| NM_001136037.2:c.356C>T | NP_001129509.2:p.Pro119Leu | |
| NM_001161403.1:c.290C>T | NP_001154875.1:p.Pro97Leu | |
| NM_001161404.1:c.275C>T | NP_001154876.1:p.Pro92Leu | |
| NM_017980.4:c.362C>T | NP_060450.2:p.Pro121Leu | |
| XM_005263709.2:c.275C>T | XP_005263766.1:p.Pro92Leu | |
| XM_005263710.2:c.83C>T | XP_005263767.1:p.Pro28Leu | |
| XM_006712627.2:c.12-11421C>T | XP_006712690.1:n.12-11421C>T | |
| XM_006712628.2:c.362C>T | XP_006712691.1:p.Pro121Leu | |
| XM_011511453.1:c.362C>T | XP_011509755.1:p.Pro121Leu | |
| XR_922961.1:n.426C>T | ||
| XM_006712627.4:c.12-11421C>T | XP_006712690.1:n.12-11421C>T | |
| XM_006712628.3:c.362C>T | XP_006712691.1:p.Pro121Leu | |
| XM_024452983.1:c.275C>T | XP_024308751.1:p.Pro92Leu | |
| XM_024452984.1:c.275C>T | XP_024308752.1:p.Pro92Leu | |
| XR_922961.2:n.426C>T | ||
| NM_001136037.3:c.356C>T | NP_001129509.2:p.Pro119Leu | |
| NM_001161403.2:c.290C>T | NP_001154875.1:p.Pro97Leu | |
| NM_001136037.4:c.356C>T | NP_001129509.2:p.Pro119Leu | |
| NM_001161403.3:c.290C>T MANE Select | NP_001154875.1:p.Pro97Leu | |
| NM_001161404.2:c.275C>T | NP_001154876.1:p.Pro92Leu | |
| NM_017980.5:c.362C>T | NP_060450.2:p.Pro121Leu |