Linked Data
ClinVar Variation Id:
127014
ClinVar RCV Id:
RCV000114880
RCV000115801
RCV000121622
RCV000168062
RCV000515300
RCV001358247
RCV003891593
dbSNP Id:
rs61754796
ExAC:
8:90983475 C / A
gnomAD v2:
8-90983475-C-A
gnomAD v3:
8-89971247-C-A
gnomAD v4:
8-89971247-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89971247C>A , CM000670.2:g.89971247C>A | GRCh38 |
| NC_000008.10:g.90983475C>A , CM000670.1:g.90983475C>A | GRCh37 |
| NC_000008.9:g.91052651C>A | NCBI36 |
| NG_008860.1:g.18425G>T , LRG_158:g.18425G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.1930G>T | ||
| ENST00000517337.2:c.382G>T | ENSP00000429971.2:p.Val128Phe | |
| ENST00000523444.2:c.382G>T | ENSP00000428252.2:p.Val128Phe | |
| ENST00000697292.1:c.628G>T | ENSP00000513229.1:p.Val210Phe | |
| ENST00000697293.1:c.628G>T | ENSP00000513230.1:p.Val210Phe | |
| ENST00000697294.1:c.*239G>T | ENSP00000513231.1:n.*239G>T | |
| ENST00000697295.1:c.81G>T | ENSP00000513232.1:p.Met27Ile | |
| ENST00000697296.1:c.*296G>T | ENSP00000513233.1:n.*296G>T | |
| ENST00000697297.1:n.2413G>T | ||
| ENST00000697298.1:c.382G>T | ENSP00000513234.1:p.Val128Phe | |
| ENST00000697299.1:c.382G>T | ENSP00000513235.1:p.Val128Phe | |
| ENST00000697300.1:c.*232G>T | ENSP00000513236.1:n.*232G>T | |
| ENST00000697301.1:c.*149G>T | ENSP00000513237.1:n.*149G>T | |
| ENST00000697302.1:c.*149G>T | ENSP00000513238.1:n.*149G>T | |
| ENST00000697303.1:c.*232G>T | ENSP00000513239.1:n.*232G>T | |
| ENST00000697304.1:c.585-6740G>T | ENSP00000513240.1:n.585-6740G>T | |
| ENST00000697306.1:c.480+9487G>T | ENSP00000513241.1:n.480+9487G>T | |
| ENST00000697307.1:c.628G>T | ENSP00000513242.1:p.Val210Phe | |
| ENST00000697308.1:c.628G>T | ENSP00000513243.1:p.Val210Phe | |
| ENST00000697309.1:c.628G>T | ENSP00000513244.1:p.Val210Phe | |
| ENST00000697310.1:c.628G>T | ENSP00000513245.1:p.Val210Phe | |
| ENST00000697311.1:c.628G>T | ENSP00000513246.1:p.Val210Phe | |
| ENST00000697312.1:c.*26G>T | ENSP00000513247.1:n.*26G>T | |
| ENST00000697313.1:n.2419G>T | ||
| ENST00000697314.1:n.2419G>T | ||
| ENST00000697315.1:c.628G>T | ENSP00000513248.1:p.Val210Phe | |
| ENST00000697316.1:n.749G>T | ||
| ENST00000697317.1:n.738G>T | ||
| ENST00000697318.1:n.740G>T | ||
| ENST00000265433.8:c.628G>T MANE Select | ENSP00000265433.4:p.Val210Phe | |
| ENST00000265433.7:c.628G>T | ENSP00000265433.3:p.Val210Phe | |
| ENST00000396252.6:c.*501G>T | ENSP00000379551.2:n.*501G>T | |
| ENST00000409330.5:c.382G>T | ENSP00000386924.1:p.Val128Phe | |
| ENST00000517772.5:c.382G>T | ENSP00000428717.1:p.Val128Phe | |
| ENST00000519426.5:c.364G>T | ENSP00000430983.1:p.Val122Phe | |
| NM_001024688.2:c.382G>T | NP_001019859.1:p.Val128Phe | |
| NM_002485.4:c.628G>T , LRG_158t1:c.628G>T | NP_002476.2:p.Val210Phe | |
| XM_011517044.1:c.604G>T | XP_011515346.1:p.Val202Phe | |
| XM_011517045.1:c.382G>T | XP_011515347.1:p.Val128Phe | |
| XM_011517046.1:c.628G>T | XP_011515348.1:p.Val210Phe | |
| XR_928335.1:n.765G>T | ||
| XM_017013460.1:c.-252G>T | XP_016868949.1:n.-252G>T | |
| XM_017013462.2:c.-252G>T | XP_016868951.1:n.-252G>T | |
| XM_024447163.1:c.382G>T | XP_024302931.1:p.Val128Phe | |
| XM_024447164.1:c.382G>T | XP_024302932.1:p.Val128Phe | |
| XM_024447165.1:c.-252G>T | XP_024302933.1:n.-252G>T | |
| NM_002485.5:c.628G>T MANE Select | NP_002476.2:p.Val210Phe | |
| NM_001024688.3:c.382G>T | NP_001019859.1:p.Val128Phe |