Linked Data
ClinVar Variation Id:
376163
ClinVar RCV Id:
RCV000435530
dbSNP Id:
rs1057519800
PubMed:
PMID:23908597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121498562C>G , CM000672.2:g.121498562C>G | GRCh38 |
| NC_000010.10:g.123258076C>G , CM000672.1:g.123258076C>G | GRCh37 |
| NC_000010.9:g.123248066C>G | NCBI36 |
| NG_012449.1:g.104897G>C | |
| NG_012449.2:g.104897G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1608G>C MANE Plus Clinical | ENSP00000410294.2:p.Met536Ile | |
| ENST00000351936.11:c.1599G>C | ENSP00000309878.10:p.Met533Ile | |
| ENST00000638709.2:c.429G>C | ENSP00000491912.2:p.Met143Ile | |
| ENST00000682296.1:n.947G>C | ||
| ENST00000682550.1:c.1254G>C | ENSP00000507633.1:p.Met418Ile | |
| ENST00000682772.1:c.429G>C | ENSP00000506848.1:p.Met143Ile | |
| ENST00000682904.1:n.425G>C | ||
| ENST00000683211.1:c.1599G>C | ENSP00000508257.1:p.Met533Ile | |
| ENST00000683250.1:c.*307G>C | ENSP00000506847.1:n.*307G>C | |
| ENST00000683418.1:n.3946G>C | ||
| ENST00000684153.1:c.1254G>C | ENSP00000506937.1:p.Met418Ile | |
| ENST00000684516.1:n.2618G>C | ||
| ENST00000358487.10:c.1605G>C MANE Select | ENSP00000351276.6:p.Met535Ile | |
| ENST00000336553.10:c.1332G>C | ENSP00000337665.6:p.Met444Ile | |
| ENST00000346997.6:c.1599G>C | ENSP00000263451.5:p.Met533Ile | |
| ENST00000351936.10:c.1605G>C | ENSP00000309878.9:p.Met535Ile | |
| ENST00000356226.8:c.1254G>C | ENSP00000348559.4:p.Met418Ile | |
| ENST00000357555.9:c.1338G>C | ENSP00000350166.5:p.Met446Ile | |
| ENST00000358487.9:c.1605G>C | ENSP00000351276.5:p.Met535Ile | |
| ENST00000360144.7:c.1341G>C | ENSP00000353262.3:p.Met447Ile | |
| ENST00000369056.5:c.1608G>C | ENSP00000358052.1:p.Met536Ile | |
| ENST00000369058.7:c.1608G>C | ENSP00000358054.3:p.Met536Ile | |
| ENST00000369059.5:c.1263G>C | ENSP00000358055.1:p.Met421Ile | |
| ENST00000369060.8:c.1257G>C | ENSP00000358056.4:p.Met419Ile | |
| ENST00000369061.8:c.1269G>C | ENSP00000358057.4:p.Met423Ile | |
| ENST00000429361.5:c.381G>C | ENSP00000404219.1:p.Met127Ile | |
| ENST00000457416.6:c.1608G>C | ENSP00000410294.2:p.Met536Ile | |
| ENST00000478859.5:c.921G>C | ENSP00000474011.1:p.Met307Ile | |
| ENST00000604236.5:c.*652G>C | ENSP00000474109.1:n.*652G>C | |
| ENST00000613048.4:c.1338G>C | ENSP00000484154.1:p.Met446Ile | |
| NM_000141.4:c.1605G>C | NP_000132.3:p.Met535Ile | |
| NM_001144913.1:c.1608G>C | NP_001138385.1:p.Met536Ile | |
| NM_001144914.1:c.1269G>C | NP_001138386.1:p.Met423Ile | |
| NM_001144915.1:c.1338G>C | NP_001138387.1:p.Met446Ile | |
| NM_001144916.1:c.1260G>C | NP_001138388.1:p.Met420Ile | |
| NM_001144917.1:c.1257G>C | NP_001138389.1:p.Met419Ile | |
| NM_001144918.1:c.1254G>C | NP_001138390.1:p.Met418Ile | |
| NM_001144919.1:c.1341G>C | NP_001138391.1:p.Met447Ile | |
| NM_022970.3:c.1608G>C | NP_075259.4:p.Met536Ile | |
| NM_023029.2:c.1338G>C | NP_075418.1:p.Met446Ile | |
| NR_073009.1:n.2055G>C | ||
| XM_006717708.2:c.1659G>C | XP_006717771.1:p.Met553Ile | |
| XM_006717709.2:c.1656G>C | XP_006717772.1:p.Met552Ile | |
| XM_006717710.2:c.1665G>C | XP_006717773.1:p.Met555Ile | |
| XM_006717711.2:c.1398G>C | XP_006717774.1:p.Met466Ile | |
| XM_006717712.2:c.1320G>C | XP_006717775.1:p.Met440Ile | |
| XM_006717713.2:c.1662G>C | XP_006717776.1:p.Met554Ile | |
| XM_011539510.1:c.921G>C | XP_011537812.1:p.Met307Ile | |
| NM_001320654.1:c.921G>C | NP_001307583.1:p.Met307Ile | |
| NM_001320658.1:c.1599G>C | NP_001307587.1:p.Met533Ile | |
| XM_006717708.3:c.1659G>C | XP_006717771.1:p.Met553Ile | |
| XM_006717710.4:c.1665G>C | XP_006717773.1:p.Met555Ile | |
| XM_017015920.2:c.1659G>C | XP_016871409.1:p.Met553Ile | |
| XM_017015921.2:c.1656G>C | XP_016871410.1:p.Met552Ile | |
| XM_017015924.2:c.1317G>C | XP_016871413.1:p.Met439Ile | |
| XM_017015925.2:c.1311G>C | XP_016871414.1:p.Met437Ile | |
| XM_024447887.1:c.1395G>C | XP_024303655.1:p.Met465Ile | |
| XM_024447888.1:c.1392G>C | XP_024303656.1:p.Met464Ile | |
| XM_024447889.1:c.1389G>C | XP_024303657.1:p.Met463Ile | |
| XM_024447890.1:c.1398G>C | XP_024303658.1:p.Met466Ile | |
| XM_024447891.1:c.1320G>C | XP_024303659.1:p.Met440Ile | |
| XM_024447892.1:c.435G>C | XP_024303660.1:p.Met145Ile | |
| NM_000141.5:c.1605G>C MANE Select | NP_000132.3:p.Met535Ile | |
| NM_001144917.2:c.1257G>C | NP_001138389.1:p.Met419Ile | |
| NM_001144918.2:c.1254G>C | NP_001138390.1:p.Met418Ile | |
| NM_001144919.2:c.1341G>C | NP_001138391.1:p.Met447Ile | |
| NM_001320658.2:c.1599G>C | NP_001307587.1:p.Met533Ile | |
| NR_073009.2:n.2041G>C | ||
| NM_001144915.2:c.1338G>C | NP_001138387.1:p.Met446Ile | |
| NM_001144916.2:c.1260G>C | NP_001138388.1:p.Met420Ile | |
| NM_001320654.2:c.921G>C | NP_001307583.1:p.Met307Ile |