Revel Score:
ENST00000371117 (MANE Select)
0.221
ENST00000340994
0.221
ENST00000393616
0.221
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022617 (MID)
Genomes Max Group AF
0.00006288 (AFR)
Exomes Max Group AF
0.00023858 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51775843C>T , CM000668.2:g.51775843C>T | GRCh38 |
| NC_000006.11:g.51640641C>T , CM000668.1:g.51640641C>T | GRCh37 |
| NC_000006.10:g.51748600C>T | NCBI36 |
| NG_008753.1:g.316783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8519G>A MANE Select | ENSP00000360158.3:p.Arg2840His | |
| ENST00000340994.4:c.8519G>A | ENSP00000341097.4:p.Arg2840His | |
| ENST00000371117.7:c.8519G>A | ENSP00000360158.3:p.Arg2840His | |
| NM_138694.3:c.8519G>A | NP_619639.3:p.Arg2840His | |
| NM_170724.2:c.8519G>A | NP_733842.2:p.Arg2840His | |
| XM_011514679.1:c.8519G>A | XP_011512981.1:p.Arg2840His | |
| XM_011514680.1:c.8519G>A | XP_011512982.1:p.Arg2840His | |
| XM_011514681.1:c.8390G>A | XP_011512983.1:p.Arg2797His | |
| XM_011514682.1:c.8381G>A | XP_011512984.1:p.Arg2794His | |
| XM_011514683.1:c.7877G>A | XP_011512985.1:p.Arg2626His | |
| XM_011514684.1:c.7808G>A | XP_011512986.1:p.Arg2603His | |
| XM_011514685.1:c.8519G>A | XP_011512987.1:p.Arg2840His | |
| XM_011514686.1:c.8519G>A | XP_011512988.1:p.Arg2840His | |
| XM_011514687.1:c.8519G>A | XP_011512989.1:p.Arg2840His | |
| XM_011514688.1:c.8519G>A | XP_011512990.1:p.Arg2840His | |
| XM_011514690.1:c.2594G>A | XP_011512992.1:p.Arg865His | |
| XM_011514691.1:c.2594G>A | XP_011512993.1:p.Arg865His | |
| XM_011514680.3:c.8519G>A | XP_011512982.1:p.Arg2840His | |
| XM_011514682.3:c.8381G>A | XP_011512984.1:p.Arg2794His | |
| XM_011514683.3:c.7877G>A | XP_011512985.1:p.Arg2626His | |
| XM_011514684.3:c.7808G>A | XP_011512986.1:p.Arg2603His | |
| XM_011514686.2:c.8519G>A | XP_011512988.1:p.Arg2840His | |
| XM_011514688.2:c.8519G>A | XP_011512990.1:p.Arg2840His | |
| XM_011514690.3:c.2594G>A | XP_011512992.1:p.Arg865His | |
| XM_011514691.3:c.2594G>A | XP_011512993.1:p.Arg865His | |
| XM_017010944.2:c.8519G>A | XP_016866433.1:p.Arg2840His | |
| XM_017010945.2:c.8444G>A | XP_016866434.1:p.Arg2815His | |
| XM_017010946.2:c.8324G>A | XP_016866435.1:p.Arg2775His | |
| XM_017010947.2:c.8255G>A | XP_016866436.1:p.Arg2752His | |
| XM_017010948.2:c.7808G>A | XP_016866437.1:p.Arg2603His | |
| XM_017010949.2:c.6659G>A | XP_016866438.1:p.Arg2220His | |
| XM_017010950.1:c.8519G>A | XP_016866439.1:p.Arg2840His | |
| XM_017010951.1:c.8519G>A | XP_016866440.1:p.Arg2840His | |
| XR_001743469.1:n.8795G>A | ||
| NM_138694.4:c.8519G>A MANE Select | NP_619639.3:p.Arg2840His | |
| NM_170724.3:c.8519G>A | NP_733842.2:p.Arg2840His |