Revel Score:
ENST00000371117 (MANE Select)
0.908
ENST00000340994
0.908
ENST00000393616
0.908
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00384509 (MID)
Genomes Max Group AF
0.00026014 (AMR)
Exomes Max Group AF
0.00404176 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51744505A>G , CM000668.2:g.51744505A>G | GRCh38 |
| NC_000006.11:g.51609303A>G , CM000668.1:g.51609303A>G | GRCh37 |
| NC_000006.10:g.51717262A>G | NCBI36 |
| NG_008753.1:g.348121T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10036T>C MANE Select | ENSP00000360158.3:p.Cys3346Arg | |
| ENST00000340994.4:c.10036T>C | ENSP00000341097.4:p.Cys3346Arg | |
| ENST00000371117.7:c.10036T>C | ENSP00000360158.3:p.Cys3346Arg | |
| NM_138694.3:c.10036T>C | NP_619639.3:p.Cys3346Arg | |
| NM_170724.2:c.10036T>C | NP_733842.2:p.Cys3346Arg | |
| XM_011514679.1:c.10036T>C | XP_011512981.1:p.Cys3346Arg | |
| XM_011514680.1:c.10036T>C | XP_011512982.1:p.Cys3346Arg | |
| XM_011514681.1:c.9907T>C | XP_011512983.1:p.Cys3303Arg | |
| XM_011514682.1:c.9898T>C | XP_011512984.1:p.Cys3300Arg | |
| XM_011514683.1:c.9394T>C | XP_011512985.1:p.Cys3132Arg | |
| XM_011514684.1:c.9325T>C | XP_011512986.1:p.Cys3109Arg | |
| XM_011514685.1:c.10036T>C | XP_011512987.1:p.Cys3346Arg | |
| XM_011514686.1:c.10036T>C | XP_011512988.1:p.Cys3346Arg | |
| XM_011514687.1:c.10036T>C | XP_011512989.1:p.Cys3346Arg | |
| XM_011514690.1:c.4111T>C | XP_011512992.1:p.Cys1371Arg | |
| XM_011514691.1:c.4111T>C | XP_011512993.1:p.Cys1371Arg | |
| XM_011514680.3:c.10036T>C | XP_011512982.1:p.Cys3346Arg | |
| XM_011514682.3:c.9898T>C | XP_011512984.1:p.Cys3300Arg | |
| XM_011514683.3:c.9394T>C | XP_011512985.1:p.Cys3132Arg | |
| XM_011514684.3:c.9325T>C | XP_011512986.1:p.Cys3109Arg | |
| XM_011514686.2:c.10036T>C | XP_011512988.1:p.Cys3346Arg | |
| XM_011514690.3:c.4111T>C | XP_011512992.1:p.Cys1371Arg | |
| XM_011514691.3:c.4111T>C | XP_011512993.1:p.Cys1371Arg | |
| XM_017010944.2:c.10036T>C | XP_016866433.1:p.Cys3346Arg | |
| XM_017010945.2:c.9961T>C | XP_016866434.1:p.Cys3321Arg | |
| XM_017010946.2:c.9841T>C | XP_016866435.1:p.Cys3281Arg | |
| XM_017010947.2:c.9772T>C | XP_016866436.1:p.Cys3258Arg | |
| XM_017010948.2:c.9325T>C | XP_016866437.1:p.Cys3109Arg | |
| XM_017010949.2:c.8176T>C | XP_016866438.1:p.Cys2726Arg | |
| XM_017010950.1:c.10036T>C | XP_016866439.1:p.Cys3346Arg | |
| XR_001743469.1:n.10312T>C | ||
| NM_138694.4:c.10036T>C MANE Select | NP_619639.3:p.Cys3346Arg | |
| NM_170724.3:c.10036T>C | NP_733842.2:p.Cys3346Arg |