Revel Score:
ENST00000371117 (MANE Select)
0.888
ENST00000340994
0.888
ENST00000393616
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791244A>G , CM000668.2:g.51791244A>G | GRCh38 |
| NC_000006.11:g.51656042A>G , CM000668.1:g.51656042A>G | GRCh37 |
| NC_000006.10:g.51764001A>G | NCBI36 |
| NG_008753.1:g.301382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8432T>C MANE Select | ENSP00000360158.3:p.Leu2811Pro | |
| ENST00000340994.4:c.8432T>C | ENSP00000341097.4:p.Leu2811Pro | |
| ENST00000371117.7:c.8432T>C | ENSP00000360158.3:p.Leu2811Pro | |
| NM_138694.3:c.8432T>C | NP_619639.3:p.Leu2811Pro | |
| NM_170724.2:c.8432T>C | NP_733842.2:p.Leu2811Pro | |
| XM_011514679.1:c.8432T>C | XP_011512981.1:p.Leu2811Pro | |
| XM_011514680.1:c.8432T>C | XP_011512982.1:p.Leu2811Pro | |
| XM_011514681.1:c.8303T>C | XP_011512983.1:p.Leu2768Pro | |
| XM_011514682.1:c.8303-15323T>C | XP_011512984.1:n.8303-15323T>C | |
| XM_011514683.1:c.7790T>C | XP_011512985.1:p.Leu2597Pro | |
| XM_011514684.1:c.7721T>C | XP_011512986.1:p.Leu2574Pro | |
| XM_011514685.1:c.8432T>C | XP_011512987.1:p.Leu2811Pro | |
| XM_011514686.1:c.8432T>C | XP_011512988.1:p.Leu2811Pro | |
| XM_011514687.1:c.8432T>C | XP_011512989.1:p.Leu2811Pro | |
| XM_011514688.1:c.8432T>C | XP_011512990.1:p.Leu2811Pro | |
| XM_011514690.1:c.2507T>C | XP_011512992.1:p.Leu836Pro | |
| XM_011514691.1:c.2507T>C | XP_011512993.1:p.Leu836Pro | |
| XM_011514680.3:c.8432T>C | XP_011512982.1:p.Leu2811Pro | |
| XM_011514682.3:c.8303-15323T>C | XP_011512984.1:n.8303-15323T>C | |
| XM_011514683.3:c.7790T>C | XP_011512985.1:p.Leu2597Pro | |
| XM_011514684.3:c.7721T>C | XP_011512986.1:p.Leu2574Pro | |
| XM_011514686.2:c.8432T>C | XP_011512988.1:p.Leu2811Pro | |
| XM_011514688.2:c.8432T>C | XP_011512990.1:p.Leu2811Pro | |
| XM_011514690.3:c.2507T>C | XP_011512992.1:p.Leu836Pro | |
| XM_011514691.3:c.2507T>C | XP_011512993.1:p.Leu836Pro | |
| XM_017010944.2:c.8432T>C | XP_016866433.1:p.Leu2811Pro | |
| XM_017010945.2:c.8357T>C | XP_016866434.1:p.Leu2786Pro | |
| XM_017010946.2:c.8237T>C | XP_016866435.1:p.Leu2746Pro | |
| XM_017010947.2:c.8168T>C | XP_016866436.1:p.Leu2723Pro | |
| XM_017010948.2:c.7721T>C | XP_016866437.1:p.Leu2574Pro | |
| XM_017010949.2:c.6572T>C | XP_016866438.1:p.Leu2191Pro | |
| XM_017010950.1:c.8432T>C | XP_016866439.1:p.Leu2811Pro | |
| XM_017010951.1:c.8432T>C | XP_016866440.1:p.Leu2811Pro | |
| XR_001743469.1:n.8708T>C | ||
| NM_138694.4:c.8432T>C MANE Select | NP_619639.3:p.Leu2811Pro | |
| NM_170724.3:c.8432T>C | NP_733842.2:p.Leu2811Pro |