Linked Data
ClinVar Variation Id:
431886
dbSNP Id:
rs201975081
ExAC:
10:69955234 A / G
gnomAD v2:
10-69955234-A-G
gnomAD v3:
10-68195477-A-G
gnomAD v4:
10-68195477-A-G
COSMIC:
COSM919664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195477A>G , CM000672.2:g.68195477A>G | GRCh38 |
| NC_000010.10:g.69955234A>G , CM000672.1:g.69955234A>G | GRCh37 |
| NC_000010.9:g.69625240A>G | NCBI36 |
| NG_032118.1:g.94361A>G , LRG_410:g.94361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2278A>G | ENSP00000346369.2:p.Met760Val | |
| ENST00000540630.6:c.3157A>G | ENSP00000441668.3:p.Met1053Val | |
| ENST00000613327.5:c.3103A>G | ENSP00000480757.2:p.Met1035Val | |
| ENST00000688812.1:c.*366A>G | ENSP00000510658.1:n.*366A>G | |
| ENST00000690544.1:c.*2374A>G | ENSP00000508989.1:n.*2374A>G | |
| ENST00000358913.10:c.3103A>G MANE Select | ENSP00000351790.5:p.Met1035Val | |
| ENST00000354393.6:c.2278A>G | ENSP00000346369.2:p.Met760Val | |
| ENST00000358913.9:c.3103A>G | ENSP00000351790.5:p.Met1035Val | |
| ENST00000540630.5:c.3103A>G | ENSP00000441668.2:p.Met1035Val | |
| ENST00000613327.4:c.2221A>G | ENSP00000480757.1:p.Met741Val | |
| NM_001256267.1:c.3103A>G | NP_001243196.1:p.Met1035Val | |
| NM_001256268.1:c.2221A>G | NP_001243197.1:p.Met741Val | |
| NM_032578.3:c.3103A>G , LRG_410t1:c.3103A>G | NP_115967.2:p.Met1035Val | |
| NR_045662.3:n.2530A>G | ||
| NR_045663.3:n.3232A>G | ||
| XM_006718043.2:c.3157A>G | XP_006718106.1:p.Met1053Val | |
| XM_011540292.1:c.3133A>G | XP_011538594.1:p.Met1045Val | |
| XM_017016833.1:c.3181A>G | XP_016872322.1:p.Met1061Val | |
| XM_017016834.2:c.3103A>G | XP_016872323.1:p.Met1035Val | |
| XM_024448236.1:c.1981A>G | XP_024304004.1:p.Met661Val | |
| NR_045662.4:n.2640A>G | ||
| NR_045663.4:n.3177A>G | ||
| NM_001256267.2:c.3103A>G | NP_001243196.1:p.Met1035Val | |
| NM_001256268.2:c.2221A>G | NP_001243197.1:p.Met741Val | |
| NM_032578.4:c.3103A>G MANE Select | NP_115967.2:p.Met1035Val |