Linked Data
ClinVar Variation Id:
475688
dbSNP Id:
rs2066815
ExAC:
12:56743044 G / A
gnomAD v2:
12-56743044-G-A
gnomAD v3:
12-56349260-G-A
gnomAD v4:
12-56349260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56349260G>A , CM000674.2:g.56349260G>A | GRCh38 |
| NC_000012.11:g.56743044G>A , CM000674.1:g.56743044G>A | GRCh37 |
| NC_000012.10:g.55029311G>A | NCBI36 |
| NG_046314.1:g.15994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698178.1:n.2120+85C>T | ||
| ENST00000698179.1:n.1664C>T | ||
| ENST00000698180.1:c.*1098C>T | ENSP00000513597.1:n.*1098C>T | |
| ENST00000698181.1:n.2613+85C>T | ||
| ENST00000698182.1:n.2153C>T | ||
| ENST00000698183.1:n.2613C>T | ||
| ENST00000698184.1:n.2193C>T | ||
| ENST00000698185.1:n.2732+85C>T | ||
| ENST00000698186.1:c.1211C>T | ENSP00000513598.1:p.Thr404Met | |
| ENST00000698187.1:n.1669C>T | ||
| ENST00000698188.1:n.1660C>T | ||
| ENST00000698189.1:n.2777C>T | ||
| ENST00000698190.1:n.2001C>T | ||
| ENST00000698191.1:n.1934C>T | ||
| ENST00000698192.1:c.1343C>T | ENSP00000513599.1:p.Thr448Met | |
| ENST00000698193.1:c.1343C>T | ENSP00000513600.1:p.Thr448Met | |
| ENST00000698194.1:n.2238C>T | ||
| ENST00000314128.9:c.1343C>T MANE Select | ENSP00000315768.4:p.Thr448Met | |
| ENST00000418572.7:c.*27+85C>T | ENSP00000387354.2:n.*27+85C>T | |
| ENST00000556140.6:n.2091C>T | ||
| ENST00000650805.1:c.*963+166C>T | ENSP00000498710.1:n.*963+166C>T | |
| ENST00000651078.1:n.2026C>T | ||
| ENST00000651301.1:c.*1017C>T | ENSP00000498470.1:n.*1017C>T | |
| ENST00000651339.1:n.50C>T | ||
| ENST00000651805.1:n.1918+85C>T | ||
| ENST00000651915.1:c.1341+166C>T | ENSP00000498876.1:n.1341+166C>T | |
| ENST00000651934.1:n.1872C>T | ||
| ENST00000651967.1:n.1644+85C>T | ||
| ENST00000652091.1:n.1861C>T | ||
| ENST00000652398.1:c.*1095+85C>T | ENSP00000499022.1:n.*1095+85C>T | |
| ENST00000652624.1:c.*655+166C>T | ENSP00000499108.1:n.*655+166C>T | |
| ENST00000652741.1:c.*1098C>T | ENSP00000498704.1:n.*1098C>T | |
| ENST00000314128.8:c.1343C>T | ENSP00000315768.4:p.Thr448Met | |
| ENST00000418572.6:c.*27+85C>T | ENSP00000387354.2:n.*27+85C>T | |
| ENST00000556539.5:n.273C>T | ||
| ENST00000557235.5:c.1331C>T | ENSP00000450751.1:p.Thr444Met | |
| NM_005419.3:c.1343C>T | NP_005410.1:p.Thr448Met | |
| NM_198332.1:c.1331C>T | NP_938146.1:p.Thr444Met | |
| XM_005269110.3:c.*27+85C>T | XP_005269167.2:n.*27+85C>T | |
| XM_005269111.3:c.*29C>T | XP_005269168.2:n.*29C>T | |
| XM_011538697.1:c.1343C>T | XP_011536999.1:p.Thr448Met | |
| XM_011538698.1:c.1331C>T | XP_011537000.1:p.Thr444Met | |
| XM_011538699.1:c.1343C>T | XP_011537001.1:p.Thr448Met | |
| XM_011538700.1:c.611C>T | XP_011537002.1:p.Thr204Met | |
| XM_011538701.1:c.374C>T | XP_011537003.1:p.Thr125Met | |
| XM_011538702.1:c.1341+166C>T | XP_011537004.1:n.1341+166C>T | |
| XR_245953.3:n.1533+85C>T | ||
| XR_245954.2:n.1494+85C>T | ||
| XM_011538697.2:c.1343C>T | XP_011536999.1:p.Thr448Met | |
| XM_011538698.3:c.1331C>T | XP_011537000.1:p.Thr444Met | |
| XM_011538699.3:c.1343C>T | XP_011537001.1:p.Thr448Met | |
| XM_011538700.2:c.611C>T | XP_011537002.1:p.Thr204Met | |
| XM_017019904.2:c.611C>T | XP_016875393.1:p.Thr204Met | |
| XR_001748856.1:n.1452+166C>T | ||
| XR_001748857.1:n.1533+85C>T | ||
| XR_001748858.2:n.1410+166C>T | ||
| XR_002957375.1:n.1535C>T | ||
| XR_002957376.1:n.1493C>T | ||
| NM_005419.4:c.1343C>T MANE Select | NP_005410.1:p.Thr448Met | |
| NM_198332.2:c.1331C>T | NP_938146.1:p.Thr444Met | |
| NM_001385110.1:c.1310C>T | NP_001372039.1:p.Thr437Met | |
| NM_001385111.1:c.1341+166C>T | NP_001372040.1:n.1341+166C>T | |
| NM_001385113.1:c.1343C>T | NP_001372042.1:p.Thr448Met | |
| NM_001385114.1:c.1322C>T | NP_001372043.1:p.Thr441Met | |
| NM_001385115.1:c.1331C>T | NP_001372044.1:p.Thr444Met |