Linked Data
ClinVar Variation Id:
355491
ClinVar RCV Id:
RCV001692025
dbSNP Id:
rs1052502
gnomAD v2:
6-135606565-G-A
gnomAD v3:
6-135285427-G-A
gnomAD v4:
6-135285427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135285427G>A , CM000668.2:g.135285427G>A | GRCh38 |
| NC_000006.11:g.135606565G>A , CM000668.1:g.135606565G>A | GRCh37 |
| NC_000006.10:g.135648258G>A | NCBI36 |
| NG_008643.1:g.217339C>T | |
| NG_008643.2:g.217339C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265602.11:c.*218C>T MANE Select | ENSP00000265602.6:n.*218C>T | |
| ENST00000498558.6:n.850C>T | ||
| ENST00000527681.2:c.1478C>T | ||
| ENST00000679434.1:c.5425C>T | ENSP00000505592.1:n.5425C>T | |
| ENST00000679490.1:n.3184C>T | ||
| ENST00000679502.1:n.2581C>T | ||
| ENST00000679589.1:c.*3837C>T | ENSP00000506644.1:n.*3837C>T | |
| ENST00000679668.1:c.5341C>T | ENSP00000505364.1:n.5341C>T | |
| ENST00000679672.1:c.*1784C>T | ENSP00000505697.1:n.*1784C>T | |
| ENST00000679711.1:c.2103C>T | ||
| ENST00000679742.1:c.5116C>T | ENSP00000504890.1:n.5116C>T | |
| ENST00000679890.1:n.2300C>T | ||
| ENST00000679925.1:c.*199C>T | ENSP00000505502.1:n.*199C>T | |
| ENST00000679943.1:c.3870C>T | ENSP00000505663.1:n.3870C>T | |
| ENST00000680071.1:n.4582C>T | ||
| ENST00000680119.1:c.4034C>T | ENSP00000506403.1:n.4034C>T | |
| ENST00000680328.1:n.913C>T | ||
| ENST00000680337.1:c.1164C>T | ||
| ENST00000680561.1:n.6449C>T | ||
| ENST00000680826.1:c.3994C>T | ENSP00000505224.1:n.3994C>T | |
| ENST00000680840.1:c.4037C>T | ENSP00000505809.1:n.4037C>T | |
| ENST00000680965.1:c.*1263C>T | ENSP00000505398.1:n.*1263C>T | |
| ENST00000681022.1:c.*218C>T | ENSP00000505121.1:n.*218C>T | |
| ENST00000681057.1:n.2964C>T | ||
| ENST00000681196.1:n.4479C>T | ||
| ENST00000681331.1:n.1538C>T | ||
| ENST00000681332.1:n.4326C>T | ||
| ENST00000681340.1:c.*218C>T | ENSP00000505666.1:n.*218C>T | |
| ENST00000681365.1:c.*218C>T | ENSP00000506604.1:n.*218C>T | |
| ENST00000681522.1:c.*218C>T | ENSP00000506005.1:n.*218C>T | |
| ENST00000681556.1:n.3943C>T | ||
| ENST00000681718.1:c.*2296C>T | ENSP00000505266.1:n.*2296C>T | |
| ENST00000681754.1:n.4497C>T | ||
| ENST00000681828.1:c.5365C>T | ENSP00000505608.1:n.5365C>T | |
| ENST00000681841.1:c.*218C>T | ENSP00000504965.1:n.*218C>T | |
| ENST00000681860.1:c.3625C>T | ENSP00000506250.1:n.3625C>T | |
| ENST00000265602.10:c.*218C>T | ENSP00000265602.6:n.*218C>T | |
| ENST00000367799.6:c.2205C>T | ||
| ENST00000367800.8:c.*218C>T | ENSP00000356774.4:n.*218C>T | |
| ENST00000457866.6:c.*218C>T | ENSP00000388650.2:n.*218C>T | |
| ENST00000475846.6:c.2389C>T | ||
| ENST00000487135.1:n.375C>T | ||
| ENST00000498558.5:n.658C>T | ||
| ENST00000527681.1:c.418C>T | ||
| NM_001134830.1:c.*218C>T | NP_001128302.1:n.*218C>T | |
| NM_001134831.1:c.*218C>T | NP_001128303.1:n.*218C>T | |
| NM_017651.4:c.*218C>T | NP_060121.3:n.*218C>T | |
| XM_011535910.1:c.*218C>T | XP_011534212.1:n.*218C>T | |
| XM_011535911.1:c.*218C>T | XP_011534213.1:n.*218C>T | |
| XM_011535915.1:c.*199C>T | XP_011534217.1:n.*199C>T | |
| XR_942488.1:n.5651C>T | ||
| XR_942493.1:n.5512C>T | ||
| XR_942494.1:n.5349C>T | ||
| NM_001350503.1:c.*218C>T | NP_001337432.1:n.*218C>T | |
| NM_001350504.1:c.*199C>T | NP_001337433.1:n.*199C>T | |
| XM_011535910.3:c.*218C>T | XP_011534212.1:n.*218C>T | |
| XM_011535911.3:c.*218C>T | XP_011534213.1:n.*218C>T | |
| XM_017010981.2:c.*218C>T | XP_016866470.1:n.*218C>T | |
| XM_024446479.1:c.*218C>T | XP_024302247.1:n.*218C>T | |
| XR_001743479.2:n.5748C>T | ||
| XR_001743480.2:n.4576C>T | ||
| XR_001743481.2:n.4541C>T | ||
| XR_001743482.2:n.4444C>T | ||
| XR_001743483.2:n.5645C>T | ||
| XR_001743484.2:n.5609C>T | ||
| XR_001743485.2:n.4305C>T | ||
| XR_001743486.2:n.5506C>T | ||
| XR_001743487.2:n.5731C>T | ||
| XR_001743488.1:n.5973C>T | ||
| XR_001743489.2:n.5446C>T | ||
| XR_001743490.2:n.4427C>T | ||
| XR_002956286.1:n.4080C>T | ||
| XR_002956287.1:n.3977C>T | ||
| NM_001134831.2:c.*218C>T MANE Select | NP_001128303.1:n.*218C>T | |
| NM_001134830.2:c.*218C>T | NP_001128302.1:n.*218C>T | |
| NM_001350503.2:c.*218C>T | NP_001337432.1:n.*218C>T | |
| NM_001350504.2:c.*199C>T | NP_001337433.1:n.*199C>T | |
| NM_017651.5:c.*218C>T | NP_060121.3:n.*218C>T |