Revel Score:
ENST00000371117 (MANE Select)
0.236
ENST00000340994
0.236
ENST00000393616
0.236
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51744510A>G , CM000668.2:g.51744510A>G | GRCh38 |
| NC_000006.11:g.51609308A>G , CM000668.1:g.51609308A>G | GRCh37 |
| NC_000006.10:g.51717267A>G | NCBI36 |
| NG_008753.1:g.348116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10031T>C MANE Select | ENSP00000360158.3:p.Leu3344Ser | |
| ENST00000340994.4:c.10031T>C | ENSP00000341097.4:p.Leu3344Ser | |
| ENST00000371117.7:c.10031T>C | ENSP00000360158.3:p.Leu3344Ser | |
| NM_138694.3:c.10031T>C | NP_619639.3:p.Leu3344Ser | |
| NM_170724.2:c.10031T>C | NP_733842.2:p.Leu3344Ser | |
| XM_011514679.1:c.10031T>C | XP_011512981.1:p.Leu3344Ser | |
| XM_011514680.1:c.10031T>C | XP_011512982.1:p.Leu3344Ser | |
| XM_011514681.1:c.9902T>C | XP_011512983.1:p.Leu3301Ser | |
| XM_011514682.1:c.9893T>C | XP_011512984.1:p.Leu3298Ser | |
| XM_011514683.1:c.9389T>C | XP_011512985.1:p.Leu3130Ser | |
| XM_011514684.1:c.9320T>C | XP_011512986.1:p.Leu3107Ser | |
| XM_011514685.1:c.10031T>C | XP_011512987.1:p.Leu3344Ser | |
| XM_011514686.1:c.10031T>C | XP_011512988.1:p.Leu3344Ser | |
| XM_011514687.1:c.10031T>C | XP_011512989.1:p.Leu3344Ser | |
| XM_011514690.1:c.4106T>C | XP_011512992.1:p.Leu1369Ser | |
| XM_011514691.1:c.4106T>C | XP_011512993.1:p.Leu1369Ser | |
| XM_011514680.3:c.10031T>C | XP_011512982.1:p.Leu3344Ser | |
| XM_011514682.3:c.9893T>C | XP_011512984.1:p.Leu3298Ser | |
| XM_011514683.3:c.9389T>C | XP_011512985.1:p.Leu3130Ser | |
| XM_011514684.3:c.9320T>C | XP_011512986.1:p.Leu3107Ser | |
| XM_011514686.2:c.10031T>C | XP_011512988.1:p.Leu3344Ser | |
| XM_011514690.3:c.4106T>C | XP_011512992.1:p.Leu1369Ser | |
| XM_011514691.3:c.4106T>C | XP_011512993.1:p.Leu1369Ser | |
| XM_017010944.2:c.10031T>C | XP_016866433.1:p.Leu3344Ser | |
| XM_017010945.2:c.9956T>C | XP_016866434.1:p.Leu3319Ser | |
| XM_017010946.2:c.9836T>C | XP_016866435.1:p.Leu3279Ser | |
| XM_017010947.2:c.9767T>C | XP_016866436.1:p.Leu3256Ser | |
| XM_017010948.2:c.9320T>C | XP_016866437.1:p.Leu3107Ser | |
| XM_017010949.2:c.8171T>C | XP_016866438.1:p.Leu2724Ser | |
| XM_017010950.1:c.10031T>C | XP_016866439.1:p.Leu3344Ser | |
| XR_001743469.1:n.10307T>C | ||
| NM_138694.4:c.10031T>C MANE Select | NP_619639.3:p.Leu3344Ser | |
| NM_170724.3:c.10031T>C | NP_733842.2:p.Leu3344Ser |