Linked Data
ClinVar Variation Id:
477757
dbSNP Id:
rs777293049
ExAC:
10:69959139 G / A
gnomAD v2:
10-69959139-G-A
gnomAD v3:
10-68199382-G-A
gnomAD v4:
10-68199382-G-A
COSMIC:
COSM290103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199382G>A , CM000672.2:g.68199382G>A | GRCh38 |
| NC_000010.10:g.69959139G>A , CM000672.1:g.69959139G>A | GRCh37 |
| NC_000010.9:g.69629145G>A | NCBI36 |
| NG_032118.1:g.98266G>A , LRG_410:g.98266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2475G>A | ENSP00000346369.2:p.Pro825= | |
| ENST00000540630.6:c.3354G>A | ENSP00000441668.3:p.Pro1118= | |
| ENST00000613327.5:c.3300G>A | ENSP00000480757.2:p.Pro1100= | |
| ENST00000688812.1:c.*563G>A | ENSP00000510658.1:n.*563G>A | |
| ENST00000690544.1:c.*2571G>A | ENSP00000508989.1:n.*2571G>A | |
| ENST00000358913.10:c.3300G>A MANE Select | ENSP00000351790.5:p.Pro1100= | |
| ENST00000354393.6:c.2475G>A | ENSP00000346369.2:p.Pro825= | |
| ENST00000358913.9:c.3300G>A | ENSP00000351790.5:p.Pro1100= | |
| ENST00000540630.5:c.3300G>A | ENSP00000441668.2:p.Pro1100= | |
| ENST00000613327.4:c.2418G>A | ENSP00000480757.1:p.Pro806= | |
| NM_001256267.1:c.3300G>A | NP_001243196.1:p.Pro1100= | |
| NM_001256268.1:c.2418G>A | NP_001243197.1:p.Pro806= | |
| NM_032578.3:c.3300G>A , LRG_410t1:c.3300G>A | NP_115967.2:p.Pro1100= | |
| NR_045662.3:n.2727G>A | ||
| NR_045663.3:n.3429G>A | ||
| XM_006718043.2:c.3354G>A | XP_006718106.1:p.Pro1118= | |
| XM_011540292.1:c.3330G>A | XP_011538594.1:p.Pro1110= | |
| XR_946029.1:n.1804-107C>T | ||
| XM_017016833.1:c.3378G>A | XP_016872322.1:p.Pro1126= | |
| XM_017016834.2:c.3300G>A | XP_016872323.1:p.Pro1100= | |
| XM_024448236.1:c.2178G>A | XP_024304004.1:p.Pro726= | |
| NR_045662.4:n.2837G>A | ||
| NR_045663.4:n.3374G>A | ||
| NM_001256267.2:c.3300G>A | NP_001243196.1:p.Pro1100= | |
| NM_001256268.2:c.2418G>A | NP_001243197.1:p.Pro806= | |
| NM_032578.4:c.3300G>A MANE Select | NP_115967.2:p.Pro1100= |