Revel Score:
ENST00000277010 (MANE Select)
0.102
ENST00000360710
0.102
ENST00000477726
0.102
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34637693T>A , CM000671.2:g.34637693T>A | GRCh38 |
| NC_000009.11:g.34637690T>A , CM000671.1:g.34637690T>A | GRCh37 |
| NC_000009.10:g.34627690T>A | NCBI36 |
| NG_029945.2:g.5079A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277010.9:c.5A>T MANE Select | ENSP00000277010.4:p.Gln2Leu | |
| ENST00000497006.2:n.152A>T | ||
| ENST00000679597.1:c.5A>T | ENSP00000505634.1:p.Gln2Leu | |
| ENST00000680104.1:c.5A>T | ENSP00000505949.1:p.Gln2Leu | |
| ENST00000680244.1:c.5A>T | ENSP00000505305.1:p.Gln2Leu | |
| ENST00000680277.1:c.5A>T | ENSP00000505742.1:p.Gln2Leu | |
| ENST00000680730.1:c.5A>T | ENSP00000505588.1:p.Gln2Leu | |
| ENST00000681409.1:n.124A>T | ||
| ENST00000277010.8:c.5A>T | ENSP00000277010.4:p.Gln2Leu | |
| ENST00000353468.4:c.5A>T | ENSP00000434453.1:p.Gln2Leu | |
| ENST00000378892.5:c.-389A>T | ENSP00000368170.1:n.-389A>T | |
| ENST00000461426.1:n.104A>T | ||
| ENST00000477726.1:c.5A>T | ENSP00000420022.1:p.Gln2Leu | |
| NM_001282205.1:c.5A>T | NP_001269134.1:p.Gln2Leu | |
| NM_001282206.1:c.-249A>T | NP_001269135.1:n.-249A>T | |
| NM_001282207.1:c.5A>T | NP_001269136.1:p.Gln2Leu | |
| NM_001282208.1:c.5A>T | NP_001269137.1:p.Gln2Leu | |
| NM_001282209.1:c.5A>T | NP_001269138.1:p.Gln2Leu | |
| NM_005866.3:c.5A>T | NP_005857.1:p.Gln2Leu | |
| NM_147157.2:c.5A>T | NP_671513.1:p.Gln2Leu | |
| NR_104108.1:n.134A>T | ||
| XM_011517674.1:c.5A>T | XP_011515976.1:p.Gln2Leu | |
| NM_005866.4:c.5A>T MANE Select | NP_005857.1:p.Gln2Leu | |
| NM_001282205.2:c.5A>T | NP_001269134.1:p.Gln2Leu | |
| NM_001282206.2:c.-249A>T | NP_001269135.1:n.-249A>T | |
| NM_001282207.2:c.5A>T | NP_001269136.1:p.Gln2Leu | |
| NM_001282208.2:c.5A>T | NP_001269137.1:p.Gln2Leu | |
| NM_001282209.2:c.5A>T | NP_001269138.1:p.Gln2Leu | |
| NM_147157.3:c.5A>T | NP_671513.1:p.Gln2Leu | |
| NR_104108.2:n.95A>T |