Linked Data
ClinVar Variation Id:
1507972
ClinVar RCV Id:
RCV002040296
dbSNP Id:
rs1358997583
gnomAD v2:
12-21997767-A-G
gnomAD v3:
12-21844833-A-G
gnomAD v4:
12-21844833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21844833A>G , CM000674.2:g.21844833A>G | GRCh38 |
| NC_000012.11:g.21997767A>G , CM000674.1:g.21997767A>G | GRCh37 |
| NC_000012.10:g.21889034A>G | NCBI36 |
| NG_012819.1:g.96862T>C , LRG_377:g.96862T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.3179T>C | ENSP00000261201.4:p.Met1060Thr | |
| ENST00000682068.1:c.3179T>C | ENSP00000507226.1:p.Met1060Thr | |
| ENST00000682426.1:n.756T>C | ||
| ENST00000682879.1:c.*2277T>C | ENSP00000508210.1:n.*2277T>C | |
| ENST00000683105.1:c.3179T>C | ENSP00000506801.1:p.Met1060Thr | |
| ENST00000683676.1:c.3179T>C | ENSP00000508167.1:p.Met1060Thr | |
| ENST00000683811.1:n.2680T>C | ||
| ENST00000684084.1:c.3128T>C | ENSP00000507859.1:p.Met1043Thr | |
| ENST00000261200.9:c.3179T>C MANE Select | ENSP00000261200.4:p.Met1060Thr | |
| ENST00000261201.9:c.3179T>C | ENSP00000261201.4:p.Met1060Thr | |
| ENST00000261200.8:c.3179T>C | ENSP00000261200.4:p.Met1060Thr | |
| ENST00000261201.8:c.3179T>C | ENSP00000261201.4:p.Met1060Thr | |
| ENST00000544039.5:c.2060T>C | ENSP00000440521.1:p.Met687Thr | |
| NM_005691.3:c.3179T>C | NP_005682.2:p.Met1060Thr | |
| NM_020297.3:c.3179T>C | NP_064693.2:p.Met1060Thr | |
| XM_005253284.2:c.3179T>C | XP_005253341.1:p.Met1060Thr | |
| XM_005253286.2:c.3179T>C | XP_005253343.1:p.Met1060Thr | |
| XM_005253287.3:c.3179T>C | XP_005253344.1:p.Met1060Thr | |
| XM_005253288.2:c.3179T>C | XP_005253345.1:p.Met1060Thr | |
| XM_005253289.2:c.3140T>C | XP_005253346.1:p.Met1047Thr | |
| XM_005253290.2:c.3038T>C | XP_005253347.1:p.Met1013Thr | |
| XM_006719025.2:c.3140T>C | XP_006719088.1:p.Met1047Thr | |
| XM_011520545.1:c.3179T>C | XP_011518847.1:p.Met1060Thr | |
| XM_005253284.4:c.3179T>C | XP_005253341.1:p.Met1060Thr | |
| XM_005253286.4:c.3179T>C | XP_005253343.1:p.Met1060Thr | |
| XM_005253287.5:c.3179T>C | XP_005253344.1:p.Met1060Thr | |
| XM_005253288.4:c.3179T>C | XP_005253345.1:p.Met1060Thr | |
| XM_005253289.4:c.3140T>C | XP_005253346.1:p.Met1047Thr | |
| XM_005253290.4:c.3038T>C | XP_005253347.1:p.Met1013Thr | |
| XM_006719025.4:c.3140T>C | XP_006719088.1:p.Met1047Thr | |
| XM_011520545.3:c.3179T>C | XP_011518847.1:p.Met1060Thr | |
| NM_001377273.1:c.3179T>C | NP_001364202.1:p.Met1060Thr | |
| NM_001377274.1:c.2312T>C | NP_001364203.1:p.Met771Thr | |
| NM_005691.4:c.3179T>C | NP_005682.2:p.Met1060Thr | |
| NM_020297.4:c.3179T>C MANE Select | NP_064693.2:p.Met1060Thr |