Revel Score:
ENST00000310581 (MANE Select)
0.889
ENST00000296820
0.889
ENST00000334602
0.889
ENST00000508104
0.889
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278780G>A , CM000667.2:g.1278780G>A | GRCh38 |
| NC_000005.9:g.1278895G>A , CM000667.1:g.1278895G>A | GRCh37 |
| NC_000005.8:g.1331895G>A | NCBI36 |
| NG_009265.1:g.21268C>T , LRG_343:g.21268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2147C>T MANE Select | ENSP00000309572.5:p.Ala716Val | |
| ENST00000656021.1:c.*1693C>T | ENSP00000499759.1:n.*1693C>T | |
| ENST00000310581.9:c.2147C>T | ENSP00000309572.5:p.Ala716Val | |
| ENST00000334602.10:c.2147C>T | ENSP00000334346.6:p.Ala716Val | |
| ENST00000460137.6:c.2131-20C>T | ENSP00000425003.1:n.2131-20C>T | |
| ENST00000484238.6:n.960C>T | ||
| ENST00000508104.2:c.2147C>T | ENSP00000426042.2:p.Ala716Val | |
| NM_001193376.1:c.2147C>T | NP_001180305.1:p.Ala716Val | |
| NM_198253.2:c.2147C>T , LRG_343t1:c.2147C>T | NP_937983.2:p.Ala716Val | |
| XM_011514104.1:c.617C>T | XP_011512406.1:p.Ala206Val | |
| XM_011514105.1:c.503C>T | XP_011512407.1:p.Ala168Val | |
| XM_011514106.1:c.503C>T | XP_011512408.1:p.Ala168Val | |
| NR_149162.1:n.2205C>T | ||
| NR_149163.1:n.2189-20C>T | ||
| NM_001193376.2:c.2147C>T | NP_001180305.1:p.Ala716Val | |
| NM_198253.3:c.2147C>T MANE Select | NP_937983.2:p.Ala716Val | |
| NR_149162.2:n.2226C>T | ||
| NR_149163.2:n.2210-20C>T | ||
| NM_001193376.3:c.2147C>T | NP_001180305.1:p.Ala716Val | |
| NR_149162.3:n.2226C>T | ||
| NR_149163.3:n.2210-20C>T |