Linked Data
ClinVar Variation Id:
7768
ClinVar RCV Id:
RCV001796714
dbSNP Id:
rs121909776
ExAC:
2:202052521 T / C
gnomAD v2:
2-202052521-T-C
gnomAD v3:
2-201187798-T-C
gnomAD v4:
2-201187798-T-C
PubMed:
PMID:11973654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201187798T>C , CM000664.2:g.201187798T>C | GRCh38 |
| NC_000002.11:g.202052521T>C , CM000664.1:g.202052521T>C | GRCh37 |
| NC_000002.10:g.201760766T>C | NCBI36 |
| NG_007265.1:g.9667T>C , LRG_33:g.9667T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313728.12:c.440T>C | ENSP00000314599.7:p.Met147Thr | |
| ENST00000346817.10:c.440T>C | ENSP00000237865.7:p.Met147Thr | |
| ENST00000374650.8:c.440T>C | ENSP00000363781.3:p.Met147Thr | |
| ENST00000438843.6:c.347+1674T>C | ENSP00000401914.1:n.347+1674T>C | |
| ENST00000471191.2:c.440T>C | ENSP00000512475.1:p.Met147Thr | |
| ENST00000485408.2:n.875T>C | ||
| ENST00000492363.6:c.440T>C | ENSP00000512459.1:p.Met147Thr | |
| ENST00000696190.1:n.615T>C | ||
| ENST00000696191.1:n.765+1674T>C | ||
| ENST00000696199.1:c.440T>C | ENSP00000512481.1:p.Met147Thr | |
| ENST00000286186.11:c.440T>C MANE Select | ENSP00000286186.6:p.Met147Thr | |
| ENST00000272879.9:c.440T>C | ENSP00000272879.5:p.Met147Thr | |
| ENST00000286186.10:c.440T>C | ENSP00000286186.6:p.Met147Thr | |
| ENST00000313728.11:c.440T>C | ENSP00000314599.7:p.Met147Thr | |
| ENST00000346817.9:c.440T>C | ENSP00000237865.7:p.Met147Thr | |
| ENST00000360132.7:c.440T>C | ENSP00000353250.3:p.Met147Thr | |
| ENST00000374650.7:c.440T>C | ENSP00000363781.3:p.Met147Thr | |
| ENST00000438843.5:c.347+1674T>C | ENSP00000401914.1:n.347+1674T>C | |
| ENST00000448480.1:c.440T>C | ENSP00000396835.1:p.Met147Thr | |
| ENST00000460140.5:n.644T>C | ||
| ENST00000471191.1:n.119T>C | ||
| ENST00000485408.1:n.53T>C | ||
| ENST00000492363.5:n.440T>C | ||
| NM_001206524.1:c.440T>C | NP_001193453.1:p.Met147Thr | |
| NM_001206542.1:c.440T>C | NP_001193471.1:p.Met147Thr | |
| NM_001230.4:c.440T>C | NP_001221.2:p.Met147Thr | |
| NM_001306083.1:c.440T>C | NP_001293012.1:p.Met147Thr | |
| NM_032974.4:c.440T>C | NP_116756.2:p.Met147Thr | |
| NM_032976.3:c.440T>C | NP_116758.1:p.Met147Thr | |
| NM_032977.3:c.440T>C , LRG_33t1:c.440T>C | NP_116759.2:p.Met147Thr | |
| XM_005246907.2:c.440T>C | XP_005246964.1:p.Met147Thr | |
| XM_006712796.2:c.-216T>C | XP_006712859.1:n.-216T>C | |
| XM_011511990.1:c.440T>C | XP_011510292.1:p.Met147Thr | |
| XR_923043.1:n.644T>C | ||
| XR_923044.1:n.644T>C | ||
| XM_006712796.3:c.-216T>C | XP_006712859.1:n.-216T>C | |
| XM_011511990.2:c.440T>C | XP_011510292.1:p.Met147Thr | |
| XR_923043.2:n.644T>C | ||
| XR_923044.2:n.644T>C | ||
| NM_001206524.2:c.440T>C | NP_001193453.1:p.Met147Thr | |
| NM_001206542.2:c.440T>C | NP_001193471.1:p.Met147Thr | |
| NM_001230.5:c.440T>C | NP_001221.2:p.Met147Thr | |
| NM_001306083.2:c.440T>C | NP_001293012.1:p.Met147Thr | |
| NM_032974.5:c.440T>C | NP_116756.2:p.Met147Thr | |
| NM_032977.4:c.440T>C MANE Select | NP_116759.2:p.Met147Thr | |
| NM_032976.4:c.440T>C | NP_116758.1:p.Met147Thr |