Revel Score:
ENST00000434067
0.160
ENST00000415685
0.160
ENST00000265074 (MANE Select)
0.160
ENST00000415167
0.160
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32786283A>T , CM000667.2:g.32786283A>T | GRCh38 |
| NC_000005.9:g.32786389A>T , CM000667.1:g.32786389A>T | GRCh37 |
| NC_000005.8:g.32822146A>T | NCBI36 |
| NG_028162.1:g.80647A>T | |
| NG_028162.2:g.102208A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.1564A>T MANE Select | ENSP00000265074.8:p.Asn522Tyr | |
| ENST00000265074.12:c.1564A>T | ENSP00000265074.8:p.Asn522Tyr | |
| ENST00000326958.5:c.913A>T | ENSP00000318340.2:p.Asn305Tyr | |
| ENST00000415167.2:c.1561A>T | ENSP00000398028.2:p.Asn521Tyr | |
| ENST00000434067.6:c.916A>T | ENSP00000388408.2:p.Asn306Tyr | |
| NM_000908.3:c.1561A>T | NP_000899.1:p.Asn521Tyr | |
| NM_001204375.1:c.1564A>T | NP_001191304.1:p.Asn522Tyr | |
| NM_001204376.1:c.913A>T | NP_001191305.1:p.Asn305Tyr | |
| XM_005248309.1:c.916A>T | XP_005248366.1:p.Asn306Tyr | |
| XM_011514047.1:c.895A>T | XP_011512349.1:p.Asn299Tyr | |
| XM_011514048.1:c.844A>T | XP_011512350.1:p.Asn282Tyr | |
| XM_011514049.1:c.787A>T | XP_011512351.1:p.Asn263Tyr | |
| NM_001363652.1:c.916A>T | NP_001350581.1:p.Asn306Tyr | |
| NM_001364458.1:c.844A>T | NP_001351387.1:p.Asn282Tyr | |
| NM_001364460.1:c.793A>T | NP_001351389.1:p.Asn265Tyr | |
| XM_011514047.2:c.895A>T | XP_011512349.1:p.Asn299Tyr | |
| XM_011514049.3:c.787A>T | XP_011512351.1:p.Asn263Tyr | |
| XM_017009492.2:c.1441A>T | XP_016864981.1:p.Asn481Tyr | |
| NM_001204375.2:c.1564A>T MANE Select | NP_001191304.1:p.Asn522Tyr | |
| NM_000908.4:c.1561A>T | NP_000899.1:p.Asn521Tyr | |
| NM_001363652.2:c.916A>T | NP_001350581.1:p.Asn306Tyr | |
| NM_001364458.2:c.844A>T | NP_001351387.1:p.Asn282Tyr | |
| NM_001364460.2:c.793A>T | NP_001351389.1:p.Asn265Tyr | |
| NM_001204376.2:c.913A>T | NP_001191305.1:p.Asn305Tyr |