Linked Data
ClinVar Variation Id:
406078
dbSNP Id:
rs778147657
ExAC:
16:2134424 C / G
gnomAD v2:
16-2134424-C-G
gnomAD v4:
16-2084423-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084423C>G , CM000678.2:g.2084423C>G | GRCh38 |
| NC_000016.9:g.2134424C>G , CM000678.1:g.2134424C>G | GRCh37 |
| NC_000016.8:g.2074425C>G | NCBI36 |
| NG_005895.1:g.40118C>G , LRG_487:g.40118C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2550C>G | ENSP00000455997.2:n.*2550C>G | |
| ENST00000642206.2:c.4048C>G | ENSP00000495146.2:p.Pro1350Ala | |
| ENST00000642365.2:c.4198C>G | ENSP00000495459.2:p.Pro1400Ala | |
| ENST00000644417.2:c.*4581C>G | ENSP00000493912.2:n.*4581C>G | |
| ENST00000646464.2:c.*6950C>G | ENSP00000496610.2:n.*6950C>G | |
| ENST00000219476.9:c.4201C>G MANE Select | ENSP00000219476.3:p.Pro1401Ala | |
| ENST00000350773.9:c.4132C>G | ENSP00000344383.4:p.Pro1378Ala | |
| ENST00000401874.7:c.4000C>G | ENSP00000384468.2:p.Pro1334Ala | |
| ENST00000568454.6:c.4033C>G | ENSP00000454487.1:p.Pro1345Ala | |
| ENST00000569110.2:c.437C>G | ||
| ENST00000569930.2:n.2083C>G | ||
| ENST00000642365.1:c.2855C>G | ||
| ENST00000642561.1:c.4072C>G | ENSP00000495099.1:p.Pro1358Ala | |
| ENST00000642728.1:n.383C>G | ||
| ENST00000642797.1:c.4003C>G | ENSP00000493846.1:p.Pro1335Ala | |
| ENST00000642936.1:c.4069C>G | ENSP00000494514.1:p.Pro1357Ala | |
| ENST00000643088.1:c.4000C>G | ENSP00000494747.1:p.Pro1334Ala | |
| ENST00000643177.1:n.215C>G | ||
| ENST00000643426.1:n.1849C>G | ||
| ENST00000643946.1:c.4132C>G | ENSP00000495927.1:p.Pro1378Ala | |
| ENST00000644043.1:c.4072C>G | ENSP00000496262.1:p.Pro1358Ala | |
| ENST00000644329.1:c.4000C>G | ENSP00000496611.1:p.Pro1334Ala | |
| ENST00000644335.1:c.4003C>G | ENSP00000496317.1:p.Pro1335Ala | |
| ENST00000644399.1:c.4122C>G | ||
| ENST00000645024.1:n.2285C>G | ||
| ENST00000645186.1:c.444C>G | ||
| ENST00000646388.1:c.4201C>G | ENSP00000495921.1:p.Pro1401Ala | |
| ENST00000646634.1:n.3016C>G | ||
| ENST00000646674.1:n.1453C>G | ||
| ENST00000647042.1:n.1424C>G | ||
| ENST00000647180.1:n.1314C>G | ||
| ENST00000219476.7:c.4201C>G | ENSP00000219476.3:p.Pro1401Ala | |
| ENST00000350773.8:c.4132C>G | ENSP00000344383.4:p.Pro1378Ala | |
| ENST00000382538.10:c.3856C>G | ENSP00000371978.6:p.Pro1286Ala | |
| ENST00000401874.6:c.4000C>G | ENSP00000384468.2:p.Pro1334Ala | |
| ENST00000439117.6:c.*3368C>G | ENSP00000406980.2:n.*3368C>G | |
| ENST00000439673.6:c.3892C>G | ENSP00000399232.2:p.Pro1298Ala | |
| ENST00000497886.5:n.1959C>G | ||
| ENST00000568454.5:c.4033C>G | ENSP00000454487.1:p.Pro1345Ala | |
| ENST00000569110.1:c.383C>G | ||
| ENST00000569930.1:n.1316C>G | ||
| NM_000548.3:c.4201C>G , LRG_487t1:c.4201C>G | NP_000539.2:p.Pro1401Ala | |
| NM_001077183.1:c.4000C>G | NP_001070651.1:p.Pro1334Ala | |
| NM_001114382.1:c.4132C>G | NP_001107854.1:p.Pro1378Ala | |
| XM_005255529.3:c.4072C>G | XP_005255586.2:p.Pro1358Ala | |
| XM_005255531.3:c.4003C>G | XP_005255588.2:p.Pro1335Ala | |
| XM_011522636.1:c.4255C>G | XP_011520938.1:p.Pro1419Ala | |
| XM_011522637.1:c.4252C>G | XP_011520939.1:p.Pro1418Ala | |
| XM_011522638.1:c.4144C>G | XP_011520940.1:p.Pro1382Ala | |
| XM_011522639.1:c.4126C>G | XP_011520941.1:p.Pro1376Ala | |
| XM_011522640.1:c.4123C>G | XP_011520942.1:p.Pro1375Ala | |
| XM_011522641.1:c.3892C>G | XP_011520943.1:p.Pro1298Ala | |
| NM_000548.4:c.4201C>G | NP_000539.2:p.Pro1401Ala | |
| NM_001077183.2:c.4000C>G | NP_001070651.1:p.Pro1334Ala | |
| NM_001114382.2:c.4132C>G | NP_001107854.1:p.Pro1378Ala | |
| NM_001318827.1:c.3892C>G | NP_001305756.1:p.Pro1298Ala | |
| NM_001318829.1:c.3856C>G | NP_001305758.1:p.Pro1286Ala | |
| NM_001318831.1:c.3469C>G | NP_001305760.1:p.Pro1157Ala | |
| NM_001318832.1:c.4033C>G | NP_001305761.1:p.Pro1345Ala | |
| NM_001363528.1:c.4003C>G | NP_001350457.1:p.Pro1335Ala | |
| NM_021055.2:c.4072C>G | NP_066399.2:p.Pro1358Ala | |
| XM_005255531.4:c.4003C>G | XP_005255588.2:p.Pro1335Ala | |
| XM_011522636.2:c.4255C>G | XP_011520938.1:p.Pro1419Ala | |
| XM_011522637.2:c.4252C>G | XP_011520939.1:p.Pro1418Ala | |
| XM_011522638.2:c.4417C>G | XP_011520940.2:p.Pro1473Ala | |
| XM_011522639.2:c.4126C>G | XP_011520941.1:p.Pro1376Ala | |
| XM_011522640.2:c.4123C>G | XP_011520942.1:p.Pro1375Ala | |
| XM_017023615.1:c.4198C>G | XP_016879104.1:p.Pro1400Ala | |
| XM_017023616.1:c.4069C>G | XP_016879105.1:p.Pro1357Ala | |
| XM_017023617.1:c.4165C>G | XP_016879106.1:p.Pro1389Ala | |
| XM_017023618.1:c.2911C>G | XP_016879107.1:p.Pro971Ala | |
| XM_024450413.1:c.4000C>G | XP_024306181.1:p.Pro1334Ala | |
| NM_000548.5:c.4201C>G MANE Select | NP_000539.2:p.Pro1401Ala | |
| NM_001370404.1:c.4069C>G | NP_001357333.1:p.Pro1357Ala | |
| NM_001370405.1:c.4072C>G | NP_001357334.1:p.Pro1358Ala | |
| NM_001077183.3:c.4000C>G | NP_001070651.1:p.Pro1334Ala | |
| NM_001114382.3:c.4132C>G | NP_001107854.1:p.Pro1378Ala | |
| NM_001318827.2:c.3892C>G | NP_001305756.1:p.Pro1298Ala | |
| NM_001318829.2:c.3856C>G | NP_001305758.1:p.Pro1286Ala | |
| NM_001318831.2:c.3469C>G | NP_001305760.1:p.Pro1157Ala | |
| NM_001318832.2:c.4033C>G | NP_001305761.1:p.Pro1345Ala | |
| NM_001363528.2:c.4003C>G | NP_001350457.1:p.Pro1335Ala | |
| NM_021055.3:c.4072C>G | NP_066399.2:p.Pro1358Ala |