Linked Data
ClinVar Variation Id:
403493
dbSNP Id:
rs2066807
ExAC:
12:56740682 C / G
gnomAD v2:
12-56740682-C-G
gnomAD v3:
12-56346898-C-G
gnomAD v4:
12-56346898-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56346898C>G , CM000674.2:g.56346898C>G | GRCh38 |
| NC_000012.11:g.56740682C>G , CM000674.1:g.56740682C>G | GRCh37 |
| NC_000012.10:g.55026949C>G | NCBI36 |
| NG_046314.1:g.18356G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555488.2:n.1178G>C | ||
| ENST00000698178.1:n.2373G>C | ||
| ENST00000698179.1:n.2325G>C | ||
| ENST00000698180.1:c.*1537G>C | ENSP00000513597.1:n.*1537G>C | |
| ENST00000698181.1:n.2819G>C | ||
| ENST00000698182.1:n.2592G>C | ||
| ENST00000698183.1:n.3052G>C | ||
| ENST00000698184.1:n.2632G>C | ||
| ENST00000698185.1:n.2985G>C | ||
| ENST00000698186.1:c.1650G>C | ENSP00000513598.1:p.Met550Ile | |
| ENST00000698187.1:n.2108G>C | ||
| ENST00000698188.1:n.2449G>C | ||
| ENST00000698189.1:n.3566G>C | ||
| ENST00000698190.1:n.2440G>C | ||
| ENST00000698191.1:n.2373G>C | ||
| ENST00000698192.1:c.1782G>C | ENSP00000513599.1:p.Met594Ile | |
| ENST00000698193.1:c.1782G>C | ENSP00000513600.1:p.Met594Ile | |
| ENST00000314128.9:c.1782G>C MANE Select | ENSP00000315768.4:p.Met594Ile | |
| ENST00000556140.6:n.2554G>C | ||
| ENST00000650805.1:c.*1216G>C | ENSP00000498710.1:n.*1216G>C | |
| ENST00000651078.1:n.2435G>C | ||
| ENST00000651301.1:c.*1456G>C | ENSP00000498470.1:n.*1456G>C | |
| ENST00000651339.1:n.489G>C | ||
| ENST00000651805.1:n.2171G>C | ||
| ENST00000651915.1:c.1683G>C | ENSP00000498876.1:p.Met561Ile | |
| ENST00000651934.1:n.2222G>C | ||
| ENST00000651967.1:n.1897G>C | ||
| ENST00000652091.1:n.2300G>C | ||
| ENST00000652398.1:c.*1348G>C | ENSP00000499022.1:n.*1348G>C | |
| ENST00000652624.1:c.*908G>C | ENSP00000499108.1:n.*908G>C | |
| ENST00000652741.1:c.*1537G>C | ENSP00000498704.1:n.*1537G>C | |
| ENST00000314128.8:c.1782G>C | ENSP00000315768.4:p.Met594Ile | |
| ENST00000556539.5:n.712G>C | ||
| ENST00000557199.1:n.442G>C | ||
| ENST00000557235.5:c.1770G>C | ENSP00000450751.1:p.Met590Ile | |
| NM_005419.3:c.1782G>C | NP_005410.1:p.Met594Ile | |
| NM_198332.1:c.1770G>C | NP_938146.1:p.Met590Ile | |
| XM_011538697.1:c.1806G>C | XP_011536999.1:p.Met602Ile | |
| XM_011538698.1:c.1794G>C | XP_011537000.1:p.Met598Ile | |
| XM_011538700.1:c.1074G>C | XP_011537002.1:p.Met358Ile | |
| XM_011538701.1:c.837G>C | XP_011537003.1:p.Met279Ile | |
| XM_011538697.2:c.1806G>C | XP_011536999.1:p.Met602Ile | |
| XM_011538698.3:c.1794G>C | XP_011537000.1:p.Met598Ile | |
| XM_011538700.2:c.1074G>C | XP_011537002.1:p.Met358Ile | |
| XM_017019904.2:c.1050G>C | XP_016875393.1:p.Met350Ile | |
| XR_001748856.1:n.1705G>C | ||
| XR_001748857.1:n.1786G>C | ||
| XR_001748858.2:n.1663G>C | ||
| XR_002957375.1:n.2077G>C | ||
| XR_002957376.1:n.2035G>C | ||
| NM_005419.4:c.1782G>C MANE Select | NP_005410.1:p.Met594Ile | |
| NM_198332.2:c.1770G>C | NP_938146.1:p.Met590Ile | |
| NM_001385110.1:c.1749G>C | NP_001372039.1:p.Met583Ile | |
| NM_001385111.1:c.1683G>C | NP_001372040.1:p.Met561Ile | |
| NM_001385113.1:c.1782G>C | NP_001372042.1:p.Met594Ile | |
| NM_001385114.1:c.1761G>C | NP_001372043.1:p.Met587Ile | |
| NM_001385115.1:c.1740G>C | NP_001372044.1:p.Met580Ile |