Linked Data
ClinVar Variation Id:
298504
dbSNP Id:
rs886046632
gnomAD v2:
10-102753065-C-T
gnomAD v3:
10-100993308-C-T
gnomAD v4:
10-100993308-C-T
COSMIC:
COSM6450097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100993308C>T , CM000672.2:g.100993308C>T | GRCh38 |
| NC_000010.10:g.102753065C>T , CM000672.1:g.102753065C>T | GRCh37 |
| NC_000010.9:g.102743055C>T | NCBI36 |
| NG_012624.1:g.10773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1853C>T MANE Select | ENSP00000309595.2:p.Pro618Leu | |
| ENST00000370228.2:c.*148C>T | ENSP00000359248.1:n.*148C>T | |
| ENST00000643860.1:c.*377C>T | ENSP00000494389.1:n.*377C>T | |
| ENST00000647109.1:c.556C>T | ||
| ENST00000650396.1:c.978C>T | ||
| ENST00000311916.6:c.1853C>T | ENSP00000309595.2:p.Pro618Leu | |
| ENST00000370228.1:c.*148C>T | ENSP00000359248.1:n.*148C>T | |
| ENST00000473656.5:n.674C>T | ||
| ENST00000476766.5:n.783C>T | ||
| NM_001163812.1:c.*148C>T | NP_001157284.1:n.*148C>T | |
| NM_001163813.1:c.491C>T | NP_001157285.1:p.Pro164Leu | |
| NM_001163814.1:c.*148C>T | NP_001157286.1:n.*148C>T | |
| NM_021830.4:c.1853C>T | NP_068602.2:p.Pro618Leu | |
| XM_011539974.1:c.491C>T | XP_011538276.1:p.Pro164Leu | |
| XM_011539975.1:c.491C>T | XP_011538277.1:p.Pro164Leu | |
| XR_945788.1:n.2668C>T | ||
| XM_011539975.2:c.491C>T | XP_011538277.1:p.Pro164Leu | |
| XM_017016437.1:c.491C>T | XP_016871926.1:p.Pro164Leu | |
| XR_001747142.1:n.2147C>T | ||
| XR_001747144.1:n.2129C>T | ||
| XR_002956991.1:n.1965C>T | ||
| XR_945788.2:n.2009C>T | ||
| NM_021830.5:c.1853C>T MANE Select | NP_068602.2:p.Pro618Leu | |
| NM_001163812.2:c.*148C>T | NP_001157284.1:n.*148C>T | |
| NM_001163813.2:c.491C>T | NP_001157285.1:p.Pro164Leu | |
| NM_001163814.2:c.*148C>T | NP_001157286.1:n.*148C>T | |
| NM_001368275.1:c.491C>T | NP_001355204.1:p.Pro164Leu | |
| NR_160738.1:n.2641C>T | ||
| NR_160739.1:n.845C>T | ||
| NR_160740.1:n.2503C>T | ||
| NR_160741.1:n.2459C>T | ||
| NR_160742.1:n.2623C>T |