Linked Data
ClinVar Variation Id:
1104167
dbSNP Id:
rs368786672
MyVariant Identifiers:
chr8:g.90982690C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89970462C>A , CM000670.2:g.89970462C>A | GRCh38 |
| NC_000008.10:g.90982690C>A , CM000670.1:g.90982690C>A | GRCh37 |
| NC_000008.9:g.91051866C>A | NCBI36 |
| NG_008860.1:g.19210G>T , LRG_158:g.19210G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2100G>T | ||
| ENST00000517337.2:c.552G>T | ENSP00000429971.2:p.Pro184= | |
| ENST00000523444.2:c.552G>T | ENSP00000428252.2:p.Pro184= | |
| ENST00000697292.1:c.798G>T | ENSP00000513229.1:p.Pro266= | |
| ENST00000697293.1:c.798G>T | ENSP00000513230.1:p.Pro266= | |
| ENST00000697294.1:c.*409G>T | ENSP00000513231.1:n.*409G>T | |
| ENST00000697295.1:c.*107G>T | ENSP00000513232.1:n.*107G>T | |
| ENST00000697296.1:c.*466G>T | ENSP00000513233.1:n.*466G>T | |
| ENST00000697297.1:n.2583G>T | ||
| ENST00000697298.1:c.552G>T | ENSP00000513234.1:p.Pro184= | |
| ENST00000697299.1:c.552G>T | ENSP00000513235.1:p.Pro184= | |
| ENST00000697300.1:c.*402G>T | ENSP00000513236.1:n.*402G>T | |
| ENST00000697301.1:c.*319G>T | ENSP00000513237.1:n.*319G>T | |
| ENST00000697302.1:c.*319G>T | ENSP00000513238.1:n.*319G>T | |
| ENST00000697303.1:c.*402G>T | ENSP00000513239.1:n.*402G>T | |
| ENST00000697304.1:c.585-5955G>T | ENSP00000513240.1:n.585-5955G>T | |
| ENST00000697306.1:c.480+10272G>T | ENSP00000513241.1:n.480+10272G>T | |
| ENST00000697307.1:c.798G>T | ENSP00000513242.1:p.Pro266= | |
| ENST00000697308.1:c.798G>T | ENSP00000513243.1:p.Pro266= | |
| ENST00000697309.1:c.798G>T | ENSP00000513244.1:p.Pro266= | |
| ENST00000697310.1:c.798G>T | ENSP00000513245.1:p.Pro266= | |
| ENST00000697311.1:c.798G>T | ENSP00000513246.1:p.Pro266= | |
| ENST00000697312.1:c.*196G>T | ENSP00000513247.1:n.*196G>T | |
| ENST00000697313.1:n.2589G>T | ||
| ENST00000697314.1:n.2589G>T | ||
| ENST00000697315.1:c.798G>T | ENSP00000513248.1:p.Pro266= | |
| ENST00000697316.1:n.919G>T | ||
| ENST00000697317.1:n.908G>T | ||
| ENST00000697318.1:n.910G>T | ||
| ENST00000265433.8:c.798G>T MANE Select | ENSP00000265433.4:p.Pro266= | |
| ENST00000265433.7:c.798G>T | ENSP00000265433.3:p.Pro266= | |
| ENST00000396252.6:c.*671G>T | ENSP00000379551.2:n.*671G>T | |
| ENST00000409330.5:c.552G>T | ENSP00000386924.1:p.Pro184= | |
| NM_001024688.2:c.552G>T | NP_001019859.1:p.Pro184= | |
| NM_002485.4:c.798G>T , LRG_158t1:c.798G>T | NP_002476.2:p.Pro266= | |
| XM_011517044.1:c.774G>T | XP_011515346.1:p.Pro258= | |
| XM_011517045.1:c.552G>T | XP_011515347.1:p.Pro184= | |
| XM_011517046.1:c.798G>T | XP_011515348.1:p.Pro266= | |
| XR_928335.1:n.935G>T | ||
| XM_017013460.1:c.-82G>T | XP_016868949.1:n.-82G>T | |
| XM_017013462.2:c.-82G>T | XP_016868951.1:n.-82G>T | |
| XM_024447163.1:c.552G>T | XP_024302931.1:p.Pro184= | |
| XM_024447164.1:c.552G>T | XP_024302932.1:p.Pro184= | |
| XM_024447165.1:c.-82G>T | XP_024302933.1:n.-82G>T | |
| NM_002485.5:c.798G>T MANE Select | NP_002476.2:p.Pro266= | |
| NM_001024688.3:c.552G>T | NP_001019859.1:p.Pro184= |