Revel Score:
ENST00000358161
0.444
ENST00000372731
0.444
ENST00000372739 (MANE Select)
0.444
ENST00000372719
0.444
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128633314C>T , CM000671.2:g.128633314C>T | GRCh38 |
| NC_000009.11:g.131395593C>T , CM000671.1:g.131395593C>T | GRCh37 |
| NC_000009.10:g.130435414C>T | NCBI36 |
| NG_027748.1:g.85757C>T | |
| NG_034056.1:g.28537G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.7450C>T | ENSP00000486547.2:p.Arg2484Cys | |
| ENST00000630866.2:c.7477C>T | ENSP00000487444.1:p.Arg2493Cys | |
| ENST00000704202.1:c.7501C>T | ENSP00000515764.1:p.Arg2501Cys | |
| ENST00000704203.1:c.7450C>T | ENSP00000515765.1:p.Arg2484Cys | |
| ENST00000704204.1:c.6940C>T | ENSP00000515766.1:p.Arg2314Cys | |
| ENST00000704206.1:c.5019C>T | ||
| ENST00000704207.1:c.3356C>T | ||
| ENST00000706487.1:c.7414C>T | ENSP00000516412.1:p.Arg2472Cys | |
| ENST00000372739.7:c.7414C>T MANE Select | ENSP00000361824.4:p.Arg2472Cys | |
| ENST00000636010.1:n.1138C>T | ||
| ENST00000358161.9:c.7339C>T | ENSP00000350882.6:p.Arg2447Cys | |
| ENST00000372731.8:c.7399C>T | ENSP00000361816.4:p.Arg2467Cys | |
| ENST00000372739.5:c.7414C>T | ENSP00000361824.3:p.Arg2472Cys | |
| ENST00000625980.2:n.1368C>T | ||
| ENST00000630147.1:n.437C>T | ||
| ENST00000630763.1:n.1171C>T | ||
| ENST00000630804.2:c.7354C>T | ENSP00000486308.1:p.Arg2452Cys | |
| ENST00000630866.1:c.7477C>T | ENSP00000487444.1:p.Arg2493Cys | |
| NM_001130438.2:c.7414C>T | NP_001123910.1:p.Arg2472Cys | |
| NM_001195532.1:c.7339C>T | NP_001182461.1:p.Arg2447Cys | |
| NM_003127.3:c.7399C>T | NP_003118.2:p.Arg2467Cys | |
| XM_006717245.1:c.7513C>T | XP_006717308.1:p.Arg2505Cys | |
| XM_006717246.1:c.7498C>T | XP_006717309.1:p.Arg2500Cys | |
| XM_006717247.1:c.7453C>T | XP_006717310.1:p.Arg2485Cys | |
| XM_006717248.1:c.7450C>T | XP_006717311.1:p.Arg2484Cys | |
| XM_006717249.1:c.7435C>T | XP_006717312.1:p.Arg2479Cys | |
| XM_006717250.1:c.7432C>T | XP_006717313.1:p.Arg2478Cys | |
| XM_006717251.1:c.7417C>T | XP_006717314.1:p.Arg2473Cys | |
| XM_006717252.1:c.7390C>T | XP_006717315.1:p.Arg2464Cys | |
| XM_006717253.1:c.7375C>T | XP_006717316.1:p.Arg2459Cys | |
| XM_006717254.1:c.7477C>T | XP_006717317.1:p.Arg2493Cys | |
| NM_001363759.1:c.7477C>T | NP_001350688.1:p.Arg2493Cys | |
| NM_001363765.1:c.7354C>T | NP_001350694.1:p.Arg2452Cys | |
| XM_006717247.2:c.7453C>T | XP_006717310.1:p.Arg2485Cys | |
| XM_006717248.2:c.7450C>T | XP_006717311.1:p.Arg2484Cys | |
| XM_006717251.2:c.7417C>T | XP_006717314.1:p.Arg2473Cys | |
| XM_006717252.3:c.7390C>T | XP_006717315.1:p.Arg2464Cys | |
| XM_017015059.1:c.7396C>T | XP_016870548.1:p.Arg2466Cys | |
| XM_017015060.1:c.7372C>T | XP_016870549.1:p.Arg2458Cys | |
| NM_001130438.3:c.7414C>T MANE Select | NP_001123910.1:p.Arg2472Cys | |
| NM_001195532.2:c.7339C>T | NP_001182461.1:p.Arg2447Cys | |
| NM_001363759.2:c.7477C>T | NP_001350688.1:p.Arg2493Cys | |
| NM_001363765.2:c.7354C>T | NP_001350694.1:p.Arg2452Cys | |
| NM_001375310.1:c.7501C>T | NP_001362239.1:p.Arg2501Cys | |
| NM_001375311.2:c.7414C>T | NP_001362240.1:p.Arg2472Cys | |
| NM_001375312.2:c.7450C>T | NP_001362241.2:p.Arg2484Cys | |
| NM_001375313.1:c.7396C>T | NP_001362242.1:p.Arg2466Cys | |
| NM_001375314.2:c.7354C>T | NP_001362243.1:p.Arg2452Cys | |
| NM_001375318.1:c.7513C>T | NP_001362247.1:p.Arg2505Cys | |
| NM_003127.4:c.7399C>T | NP_003118.2:p.Arg2467Cys |