Revel Score:
ENST00000160740
0.182
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42294268A>C , CM000681.2:g.42294268A>C | GRCh38 |
| NC_000019.9:g.42798420A>C , CM000681.1:g.42798420A>C | GRCh37 |
| NC_000019.8:g.47490260A>C | NCBI36 |
| NG_042060.1:g.30732A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684265.1:n.6098A>C | ||
| ENST00000681038.1:c.7018A>C MANE Select | ENSP00000505728.1:p.Lys2340Gln | |
| ENST00000160740.7:c.4285A>C | ENSP00000160740.3:p.Lys1429Gln | |
| ENST00000572681.6:c.7009A>C | ENSP00000459719.1:p.Lys2337Gln | |
| ENST00000573349.5:c.478A>C | ENSP00000458543.1:p.Lys160Gln | |
| ENST00000575287.1:c.337A>C | ENSP00000460230.1:p.Lys113Gln | |
| ENST00000575354.6:c.4291A>C | ENSP00000458663.2:p.Lys1431Gln | |
| ENST00000576505.6:c.431A>C | ||
| NM_001304815.1:c.7018A>C | NP_001291744.1:p.Lys2340Gln | |
| NM_015125.4:c.4291A>C | NP_055940.3:p.Lys1431Gln | |
| XM_005258673.1:c.4285A>C | XP_005258730.1:p.Lys1429Gln | |
| XM_005258674.1:c.4285A>C | XP_005258731.1:p.Lys1429Gln | |
| XM_005258675.1:c.4282A>C | XP_005258732.1:p.Lys1428Gln | |
| XM_011526660.1:c.7018A>C | XP_011524962.1:p.Lys2340Gln | |
| XM_011526661.1:c.7015A>C | XP_011524963.1:p.Lys2339Gln | |
| XM_011526662.1:c.7015A>C | XP_011524964.1:p.Lys2339Gln | |
| XM_011526663.1:c.7015A>C | XP_011524965.1:p.Lys2339Gln | |
| XM_011526664.1:c.7012A>C | XP_011524966.1:p.Lys2338Gln | |
| XM_011526665.1:c.7018A>C | XP_011524967.1:p.Lys2340Gln | |
| XM_011526666.1:c.7015A>C | XP_011524968.1:p.Lys2339Gln | |
| XM_005258673.2:c.4285A>C | XP_005258730.1:p.Lys1429Gln | |
| XM_005258674.2:c.4285A>C | XP_005258731.1:p.Lys1429Gln | |
| XM_005258675.2:c.4282A>C | XP_005258732.1:p.Lys1428Gln | |
| XM_011526660.2:c.7018A>C | XP_011524962.1:p.Lys2340Gln | |
| XM_011526661.2:c.7015A>C | XP_011524963.1:p.Lys2339Gln | |
| XM_011526662.2:c.7015A>C | XP_011524964.1:p.Lys2339Gln | |
| XM_011526663.2:c.7015A>C | XP_011524965.1:p.Lys2339Gln | |
| XM_011526664.2:c.7012A>C | XP_011524966.1:p.Lys2338Gln | |
| XM_011526665.2:c.7018A>C | XP_011524967.1:p.Lys2340Gln | |
| XM_011526666.2:c.7015A>C | XP_011524968.1:p.Lys2339Gln | |
| XM_024451432.1:c.7012A>C | XP_024307200.1:p.Lys2338Gln | |
| XM_024451433.1:c.7015A>C | XP_024307201.1:p.Lys2339Gln | |
| XR_002958286.1:n.6961A>C | ||
| XR_002958287.1:n.6958A>C | ||
| XR_002958288.1:n.6940A>C | ||
| XR_002958289.1:n.6937A>C | ||
| XR_002958290.1:n.6937A>C | ||
| NM_001304815.2:c.7018A>C | NP_001291744.1:p.Lys2340Gln | |
| NM_001379480.1:c.7015A>C | NP_001366409.1:p.Lys2339Gln | |
| NM_001379482.1:c.7015A>C | NP_001366411.1:p.Lys2339Gln | |
| NM_001379484.1:c.4291A>C | NP_001366413.1:p.Lys1431Gln | |
| NM_001379485.1:c.4288A>C | NP_001366414.1:p.Lys1430Gln | |
| NM_001386298.1:c.7018A>C MANE Select | NP_001373227.1:p.Lys2340Gln | |
| NM_015125.5:c.4291A>C | NP_055940.3:p.Lys1431Gln |