Linked Data
ClinVar Variation Id:
4677
ClinVar RCV Id:
RCV000004941
dbSNP Id:
rs121908158
gnomAD v3:
10-14954009-A-G
gnomAD v4:
10-14954009-A-G
ERepo:
CA117009/MONDO:0011225/116
PubMed:
PMID:15731174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14954009A>G , CM000672.2:g.14954009A>G | GRCh38 |
| NC_000010.10:g.14996008A>G , CM000672.1:g.14996008A>G | GRCh37 |
| NC_000010.9:g.15036014A>G | NCBI36 |
| NG_007276.1:g.5087T>C , LRG_54:g.5087T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378241.6:c.2T>C | ENSP00000367487.3:p.Met1Thr | |
| ENST00000456122.2:c.2T>C | ENSP00000413180.3:p.Met1Thr | |
| ENST00000489161.2:c.2T>C | ENSP00000513000.2:p.Met1Thr | |
| ENST00000492201.6:c.2T>C | ENSP00000512999.1:p.Met1Thr | |
| ENST00000697047.1:c.2T>C | ENSP00000513066.1:p.Met1Thr | |
| ENST00000697070.1:c.2T>C | ENSP00000513085.1:p.Met1Thr | |
| ENST00000697071.1:c.2T>C | ENSP00000513086.1:p.Met1Thr | |
| ENST00000697072.1:c.2T>C | ENSP00000513087.1:p.Met1Thr | |
| ENST00000697073.1:c.2T>C | ENSP00000513088.2:p.Met1Thr | |
| ENST00000697074.1:c.2T>C | ENSP00000513089.2:p.Met1Thr | |
| ENST00000697075.1:c.2T>C | ENSP00000513090.1:p.Met1Thr | |
| ENST00000697076.1:c.2T>C | ENSP00000513091.1:p.Met1Thr | |
| ENST00000697077.1:c.2T>C | ENSP00000513092.1:p.Met1Thr | |
| ENST00000697078.1:c.2T>C | ENSP00000513093.1:p.Met1Thr | |
| ENST00000697080.1:c.2T>C | ENSP00000513094.1:p.Met1Thr | |
| ENST00000697081.1:c.2T>C | ENSP00000513095.1:p.Met1Thr | |
| ENST00000697082.1:c.2T>C | ENSP00000513096.1:p.Met1Thr | |
| ENST00000697083.1:c.2T>C | ENSP00000513097.1:p.Met1Thr | |
| ENST00000697084.1:c.2T>C | ENSP00000513098.1:p.Met1Thr | |
| ENST00000697085.1:c.2T>C | ENSP00000513099.1:p.Met1Thr | |
| ENST00000697087.1:c.2T>C | ENSP00000513100.1:p.Met1Thr | |
| ENST00000697088.1:c.2T>C | ENSP00000513101.1:p.Met1Thr | |
| ENST00000697089.1:c.2T>C | ENSP00000513102.1:p.Met1Thr | |
| ENST00000697091.1:n.63T>C | ||
| ENST00000378278.7:c.2T>C MANE Select | ENSP00000367527.2:p.Met1Thr | |
| ENST00000357717.6:c.-203T>C | ENSP00000350349.2:n.-203T>C | |
| ENST00000378241.5:c.-571T>C | ENSP00000367487.1:n.-571T>C | |
| ENST00000378246.6:c.-288T>C | ENSP00000367492.2:n.-288T>C | |
| ENST00000378249.5:c.-236T>C | ENSP00000367496.1:n.-236T>C | |
| ENST00000378254.5:c.-490T>C | ENSP00000367502.1:n.-490T>C | |
| ENST00000378255.5:c.-812T>C | ENSP00000367503.1:n.-812T>C | |
| ENST00000378258.5:c.-444T>C | ENSP00000367506.1:n.-444T>C | |
| ENST00000378278.6:c.2T>C | ENSP00000367527.2:p.Met1Thr | |
| ENST00000378289.8:c.2T>C | ENSP00000367538.4:p.Met1Thr | |
| ENST00000396817.6:c.-766T>C | ENSP00000380030.2:n.-766T>C | |
| ENST00000418843.5:c.-527T>C | ENSP00000391428.1:n.-527T>C | |
| ENST00000456122.1:c.-695T>C | ENSP00000413180.1:n.-695T>C | |
| NM_001033855.2:c.2T>C | NP_001029027.1:p.Met1Thr | |
| NM_001033857.2:c.-444T>C | NP_001029029.1:n.-444T>C | |
| NM_001033858.2:c.-766T>C | NP_001029030.1:n.-766T>C | |
| NM_001289076.1:c.-203T>C | NP_001276005.1:n.-203T>C | |
| NM_001289077.1:c.-490T>C | NP_001276006.1:n.-490T>C | |
| NM_001289078.1:c.-236T>C | NP_001276007.1:n.-236T>C | |
| NM_001289079.1:c.-812T>C | NP_001276008.1:n.-812T>C | |
| NM_022487.3:c.-288T>C | NP_071932.2:n.-288T>C | |
| NR_110297.1:n.424T>C | ||
| XM_006717491.2:c.-419T>C | XP_006717554.1:n.-419T>C | |
| XM_011519616.1:c.-373T>C | XP_011517918.1:n.-373T>C | |
| XM_011519617.1:c.-504T>C | XP_011517919.1:n.-504T>C | |
| XM_011519618.1:c.-631T>C | XP_011517920.1:n.-631T>C | |
| XM_011519619.1:c.-575T>C | XP_011517921.1:n.-575T>C | |
| XM_011519620.1:c.2T>C | XP_011517922.1:p.Met1Thr | |
| XM_011519621.1:c.2T>C | XP_011517923.1:p.Met1Thr | |
| XR_242702.2:n.99T>C | ||
| XR_930514.1:n.99T>C | ||
| XR_930515.1:n.99T>C | ||
| NM_001350965.1:c.2T>C | NP_001337894.1:p.Met1Thr | |
| NM_001350966.1:c.-236T>C | NP_001337895.1:n.-236T>C | |
| NM_001350967.1:c.-444T>C | NP_001337896.1:n.-444T>C | |
| NR_146960.1:n.424T>C | ||
| NR_146961.1:n.424T>C | ||
| NR_146962.1:n.424T>C | ||
| XM_006717491.4:c.-419T>C | XP_006717554.1:n.-419T>C | |
| XM_011519620.3:c.2T>C | XP_011517922.1:p.Met1Thr | |
| XM_011519621.2:c.2T>C | XP_011517923.1:p.Met1Thr | |
| XM_017016557.1:c.-415T>C | XP_016872046.1:n.-415T>C | |
| XM_017016558.1:c.-486T>C | XP_016872047.1:n.-486T>C | |
| XM_024448134.1:c.-307T>C | XP_024303902.1:n.-307T>C | |
| XM_024448135.1:c.-288T>C | XP_024303903.1:n.-288T>C | |
| XR_001747185.2:n.346T>C | ||
| XR_001747187.1:n.38T>C | ||
| XR_930515.2:n.346T>C | ||
| NM_001033855.3:c.2T>C MANE Select | NP_001029027.1:p.Met1Thr | |
| NM_001033857.3:c.-444T>C | NP_001029029.1:n.-444T>C | |
| NM_001033858.3:c.-766T>C | NP_001029030.1:n.-766T>C | |
| NM_001289076.2:c.-203T>C | NP_001276005.1:n.-203T>C | |
| NM_001289077.2:c.-490T>C | NP_001276006.1:n.-490T>C | |
| NM_001289078.2:c.-236T>C | NP_001276007.1:n.-236T>C | |
| NM_001289079.2:c.-812T>C | NP_001276008.1:n.-812T>C | |
| NM_001350965.2:c.2T>C | NP_001337894.1:p.Met1Thr | |
| NM_001350966.2:c.-236T>C | NP_001337895.1:n.-236T>C | |
| NM_001350967.2:c.-444T>C | NP_001337896.1:n.-444T>C | |
| NM_022487.4:c.-288T>C | NP_071932.2:n.-288T>C | |
| NR_110297.2:n.88T>C | ||
| NR_146961.2:n.88T>C |