Revel Score:
ENST00000247933
0.959
ENST00000453894
0.959
ENST00000514224 (MANE Select)
0.959
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002333T>C , CM000666.2:g.1002333T>C | GRCh38 |
| NC_000004.11:g.996121T>C , CM000666.1:g.996121T>C | GRCh37 |
| NC_000004.10:g.986121T>C | NCBI36 |
| NG_008103.1:g.20337T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1037T>C | ENSP00000247933.4:p.Leu346Pro | |
| ENST00000514224.2:c.1037T>C MANE Select | ENSP00000425081.2:p.Leu346Pro | |
| ENST00000652070.1:n.1093T>C | ||
| ENST00000247933.8:c.1037T>C | ENSP00000247933.4:p.Leu346Pro | |
| ENST00000514224.1:c.641T>C | ENSP00000425081.1:p.Leu214Pro | |
| ENST00000514698.5:n.1144T>C | ||
| NM_000203.4:c.1037T>C | NP_000194.2:p.Leu346Pro | |
| NR_110313.1:n.1125T>C | ||
| XM_006713882.2:c.641T>C | XP_006713945.1:p.Leu214Pro | |
| XM_011513459.1:c.1103T>C | XP_011511761.1:p.Leu368Pro | |
| XM_011513460.1:c.896T>C | XP_011511762.1:p.Leu299Pro | |
| XM_011513461.1:c.830T>C | XP_011511763.1:p.Leu277Pro | |
| XM_011513462.1:c.749T>C | XP_011511764.1:p.Leu250Pro | |
| XM_011513463.1:c.749T>C | XP_011511765.1:p.Leu250Pro | |
| XR_924947.1:n.1106T>C | ||
| NM_000203.5:c.1037T>C MANE Select | NP_000194.2:p.Leu346Pro | |
| NM_001363576.1:c.641T>C | NP_001350505.1:p.Leu214Pro | |
| XM_011513461.2:c.830T>C | XP_011511763.1:p.Leu277Pro | |
| XM_017008163.1:c.77T>C | XP_016863652.1:p.Leu26Pro |