UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
640309
dbSNP Id:
rs768846712
ExAC:
16:2136828 G / A
gnomAD v2:
16-2136828-G-A
gnomAD v4:
16-2086827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086827G>A , CM000678.2:g.2086827G>A | GRCh38 |
| NC_000016.9:g.2136828G>A , CM000678.1:g.2136828G>A | GRCh37 |
| NC_000016.8:g.2076829G>A | NCBI36 |
| NG_005895.1:g.42522G>A , LRG_487:g.42522G>A | |
| NG_008617.1:g.56394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3294G>A | ENSP00000455997.2:n.*3294G>A | |
| ENST00000642206.2:c.4792G>A | ENSP00000495146.2:p.Val1598Ile | |
| ENST00000642365.2:c.4942G>A | ENSP00000495459.2:p.Val1648Ile | |
| ENST00000644417.2:c.*5458G>A | ENSP00000493912.2:n.*5458G>A | |
| ENST00000646464.2:c.*7694G>A | ENSP00000496610.2:n.*7694G>A | |
| ENST00000219476.9:c.4945G>A MANE Select | ENSP00000219476.3:p.Val1649Ile | |
| ENST00000350773.9:c.4876G>A | ENSP00000344383.4:p.Val1626Ile | |
| ENST00000401874.7:c.4744G>A | ENSP00000384468.2:p.Val1582Ile | |
| ENST00000568454.6:c.4777G>A | ENSP00000454487.1:p.Val1593Ile | |
| ENST00000569110.2:c.1168G>A | ||
| ENST00000569930.2:n.2827G>A | ||
| ENST00000642365.1:c.3599G>A | ||
| ENST00000642561.1:c.4816G>A | ENSP00000495099.1:p.Val1606Ile | |
| ENST00000642728.1:n.1127G>A | ||
| ENST00000642791.1:n.542G>A | ||
| ENST00000642797.1:c.4747G>A | ENSP00000493846.1:p.Val1583Ile | |
| ENST00000642936.1:c.4813G>A | ENSP00000494514.1:p.Val1605Ile | |
| ENST00000643088.1:c.4738G>A | ENSP00000494747.1:p.Val1580Ile | |
| ENST00000643177.1:n.959G>A | ||
| ENST00000643426.1:n.2593G>A | ||
| ENST00000643946.1:c.4870G>A | ENSP00000495927.1:p.Val1624Ile | |
| ENST00000644043.1:c.4816G>A | ENSP00000496262.1:p.Val1606Ile | |
| ENST00000644278.1:n.427G>A | ||
| ENST00000644329.1:c.4744G>A | ENSP00000496611.1:p.Val1582Ile | |
| ENST00000644335.1:c.4741G>A | ENSP00000496317.1:p.Val1581Ile | |
| ENST00000644399.1:c.4866G>A | ||
| ENST00000645024.1:n.3029G>A | ||
| ENST00000646388.1:c.4939G>A | ENSP00000495921.1:p.Val1647Ile | |
| ENST00000646557.1:n.106G>A | ||
| ENST00000646634.1:n.3760G>A | ||
| ENST00000646674.1:n.2197G>A | ||
| ENST00000647042.1:n.2168G>A | ||
| ENST00000647180.1:n.2058G>A | ||
| ENST00000219476.7:c.4945G>A | ENSP00000219476.3:p.Val1649Ile | |
| ENST00000350773.8:c.4876G>A | ENSP00000344383.4:p.Val1626Ile | |
| ENST00000382538.10:c.4600G>A | ENSP00000371978.6:p.Val1534Ile | |
| ENST00000401874.6:c.4744G>A | ENSP00000384468.2:p.Val1582Ile | |
| ENST00000439117.6:c.*4112G>A | ENSP00000406980.2:n.*4112G>A | |
| ENST00000439673.6:c.4636G>A | ENSP00000399232.2:p.Val1546Ile | |
| ENST00000497886.5:n.2668G>A | ||
| ENST00000568454.5:c.4777G>A | ENSP00000454487.1:p.Val1593Ile | |
| ENST00000569110.1:c.1127G>A | ||
| ENST00000569930.1:n.2060G>A | ||
| NM_000548.3:c.4945G>A , LRG_487t1:c.4945G>A | NP_000539.2:p.Val1649Ile | |
| NM_001077183.1:c.4744G>A | NP_001070651.1:p.Val1582Ile | |
| NM_001114382.1:c.4876G>A | NP_001107854.1:p.Val1626Ile | |
| XM_005255529.3:c.4816G>A | XP_005255586.2:p.Val1606Ile | |
| XM_005255531.3:c.4747G>A | XP_005255588.2:p.Val1583Ile | |
| XM_011522636.1:c.4999G>A | XP_011520938.1:p.Val1667Ile | |
| XM_011522637.1:c.4996G>A | XP_011520939.1:p.Val1666Ile | |
| XM_011522638.1:c.4888G>A | XP_011520940.1:p.Val1630Ile | |
| XM_011522639.1:c.4870G>A | XP_011520941.1:p.Val1624Ile | |
| XM_011522640.1:c.4867G>A | XP_011520942.1:p.Val1623Ile | |
| XM_011522641.1:c.4636G>A | XP_011520943.1:p.Val1546Ile | |
| NM_000548.4:c.4945G>A | NP_000539.2:p.Val1649Ile | |
| NM_001077183.2:c.4744G>A | NP_001070651.1:p.Val1582Ile | |
| NM_001114382.2:c.4876G>A | NP_001107854.1:p.Val1626Ile | |
| NM_001318827.1:c.4636G>A | NP_001305756.1:p.Val1546Ile | |
| NM_001318829.1:c.4600G>A | NP_001305758.1:p.Val1534Ile | |
| NM_001318831.1:c.4213G>A | NP_001305760.1:p.Val1405Ile | |
| NM_001318832.1:c.4777G>A | NP_001305761.1:p.Val1593Ile | |
| NM_001363528.1:c.4747G>A | NP_001350457.1:p.Val1583Ile | |
| NM_021055.2:c.4816G>A | NP_066399.2:p.Val1606Ile | |
| XM_005255531.4:c.4747G>A | XP_005255588.2:p.Val1583Ile | |
| XM_011522636.2:c.4999G>A | XP_011520938.1:p.Val1667Ile | |
| XM_011522637.2:c.4996G>A | XP_011520939.1:p.Val1666Ile | |
| XM_011522638.2:c.5161G>A | XP_011520940.2:p.Val1721Ile | |
| XM_011522639.2:c.4870G>A | XP_011520941.1:p.Val1624Ile | |
| XM_011522640.2:c.4867G>A | XP_011520942.1:p.Val1623Ile | |
| XM_017023615.1:c.4942G>A | XP_016879104.1:p.Val1648Ile | |
| XM_017023616.1:c.4813G>A | XP_016879105.1:p.Val1605Ile | |
| XM_017023617.1:c.4909G>A | XP_016879106.1:p.Val1637Ile | |
| XM_017023618.1:c.3655G>A | XP_016879107.1:p.Val1219Ile | |
| XM_024450413.1:c.4744G>A | XP_024306181.1:p.Val1582Ile | |
| NM_000548.5:c.4945G>A MANE Select | NP_000539.2:p.Val1649Ile | |
| NM_001370404.1:c.4813G>A | NP_001357333.1:p.Val1605Ile | |
| NM_001370405.1:c.4816G>A | NP_001357334.1:p.Val1606Ile | |
| NM_001077183.3:c.4744G>A | NP_001070651.1:p.Val1582Ile | |
| NM_001114382.3:c.4876G>A | NP_001107854.1:p.Val1626Ile | |
| NM_001318827.2:c.4636G>A | NP_001305756.1:p.Val1546Ile | |
| NM_001318829.2:c.4600G>A | NP_001305758.1:p.Val1534Ile | |
| NM_001318831.2:c.4213G>A | NP_001305760.1:p.Val1405Ile | |
| NM_001318832.2:c.4777G>A | NP_001305761.1:p.Val1593Ile | |
| NM_001363528.2:c.4747G>A | NP_001350457.1:p.Val1583Ile | |
| NM_021055.3:c.4816G>A | NP_066399.2:p.Val1606Ile |