Revel Score:
ENST00000398454
0.090
ENST00000359874
0.090
ENST00000508733
0.090
ENST00000256084 (MANE Select)
0.090
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148118456G>T , CM000667.2:g.148118456G>T | GRCh38 |
| NC_000005.9:g.147498019G>T , CM000667.1:g.147498019G>T | GRCh37 |
| NC_000005.8:g.147478212G>T | NCBI36 |
| NG_009633.1:g.59485G>T , LRG_110:g.59485G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2132G>T MANE Select | ENSP00000256084.7:p.Arg711Leu | |
| ENST00000256084.7:c.2132G>T | ENSP00000256084.7:p.Arg711Leu | |
| ENST00000359874.7:c.2132G>T | ENSP00000352936.3:p.Arg711Leu | |
| ENST00000398454.5:c.2132G>T | ENSP00000381472.1:p.Arg711Leu | |
| ENST00000507988.5:n.2296G>T | ||
| ENST00000508733.5:c.2075G>T | ENSP00000421519.1:p.Arg692Leu | |
| NM_001127698.1:c.2132G>T | NP_001121170.1:p.Arg711Leu | |
| NM_001127699.1:c.2132G>T | NP_001121171.1:p.Arg711Leu | |
| NM_006846.3:c.2132G>T , LRG_110t1:c.2132G>T | NP_006837.2:p.Arg711Leu | |
| XM_011537550.1:c.2075G>T | XP_011535852.1:p.Arg692Leu | |
| XM_011537551.1:c.2048G>T | XP_011535853.1:p.Arg683Leu | |
| XM_011537551.2:c.2048G>T | XP_011535853.1:p.Arg683Leu | |
| NM_001127698.2:c.2132G>T | NP_001121170.1:p.Arg711Leu | |
| NM_001127699.2:c.2132G>T | NP_001121171.1:p.Arg711Leu | |
| NM_006846.4:c.2132G>T MANE Select | NP_006837.2:p.Arg711Leu |