Revel Score:
ENST00000340802
0.951
ENST00000359794 (MANE Select)
0.951
ENST00000395233
0.951
ENST00000551804
0.951
ENST00000547587
0.951
ENST00000312352
0.951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48145052G>T , CM000674.2:g.48145052G>T | GRCh38 |
| NC_000012.11:g.48538835G>T , CM000674.1:g.48538835G>T | GRCh37 |
| NC_000012.10:g.46825102G>T | NCBI36 |
| NG_016199.1:g.44180G>T | |
| NG_016199.2:g.44800G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550257.7:c.2236G>T | ENSP00000447997.3:p.Asp746Tyr | |
| ENST00000340802.12:c.2227G>T | ENSP00000345771.6:p.Asp743Tyr | |
| ENST00000359794.11:c.2014G>T MANE Select | ENSP00000352842.5:p.Asp672Tyr | |
| ENST00000549941.7:c.1756G>T | ENSP00000446829.3:p.Asp586Tyr | |
| ENST00000550345.6:c.2014G>T | ENSP00000450369.2:p.Asp672Tyr | |
| ENST00000550924.6:c.2014G>T | ENSP00000446945.2:p.Asp672Tyr | |
| ENST00000551339.6:c.2014G>T | ENSP00000448253.2:p.Asp672Tyr | |
| ENST00000642730.1:c.2323G>T | ENSP00000496597.1:p.Asp775Tyr | |
| ENST00000312352.11:c.2014G>T | ENSP00000309438.7:p.Asp672Tyr | |
| ENST00000340802.10:c.2227G>T | ENSP00000345771.6:p.Asp743Tyr | |
| ENST00000359794.9:c.2014G>T | ENSP00000352842.5:p.Asp672Tyr | |
| ENST00000546964.5:n.2338G>T | ||
| ENST00000547581.5:c.*2282G>T | ENSP00000447992.1:n.*2282G>T | |
| ENST00000547587.5:c.2014G>T | ENSP00000449426.1:p.Asp672Tyr | |
| ENST00000551804.5:c.1921G>T | ENSP00000448177.1:p.Asp641Tyr | |
| NM_000289.5:c.2014G>T | NP_000280.1:p.Asp672Tyr | |
| NM_001166686.1:c.2227G>T | NP_001160158.1:p.Asp743Tyr | |
| NM_001166687.1:c.2014G>T | NP_001160159.1:p.Asp672Tyr | |
| NM_001166688.1:c.2014G>T | NP_001160160.1:p.Asp672Tyr | |
| XM_005268974.1:c.2323G>T | XP_005269031.1:p.Asp775Tyr | |
| XM_005268975.1:c.2323G>T | XP_005269032.1:p.Asp775Tyr | |
| XM_005268976.2:c.2323G>T | XP_005269033.1:p.Asp775Tyr | |
| XM_005268977.1:c.2227G>T | XP_005269034.1:p.Asp743Tyr | |
| XM_005268978.2:c.2227G>T | XP_005269035.1:p.Asp743Tyr | |
| XM_005268979.1:c.2227G>T | XP_005269036.1:p.Asp743Tyr | |
| XM_011538487.1:c.2230G>T | XP_011536789.1:p.Asp744Tyr | |
| XM_011538488.1:c.2014G>T | XP_011536790.1:p.Asp672Tyr | |
| NM_000289.6:c.2014G>T MANE Select | NP_000280.1:p.Asp672Tyr | |
| NM_001166686.2:c.2227G>T | NP_001160158.1:p.Asp743Tyr | |
| NM_001354735.1:c.2323G>T | NP_001341664.1:p.Asp775Tyr | |
| NM_001354736.1:c.2323G>T | NP_001341665.1:p.Asp775Tyr | |
| NM_001354737.1:c.2227G>T | NP_001341666.1:p.Asp743Tyr | |
| NM_001354738.1:c.2227G>T | NP_001341667.1:p.Asp743Tyr | |
| NM_001354739.1:c.2227G>T | NP_001341668.1:p.Asp743Tyr | |
| NM_001354740.1:c.2158G>T | NP_001341669.1:p.Asp720Tyr | |
| NM_001354741.1:c.2038G>T | NP_001341670.1:p.Asp680Tyr | |
| NM_001354742.1:c.2014G>T | NP_001341671.1:p.Asp672Tyr | |
| NM_001354743.1:c.2014G>T | NP_001341672.1:p.Asp672Tyr | |
| NM_001354744.1:c.2014G>T | NP_001341673.1:p.Asp672Tyr | |
| NM_001354745.1:c.1927G>T | NP_001341674.1:p.Asp643Tyr | |
| NM_001354746.1:c.1888G>T | NP_001341675.1:p.Asp630Tyr | |
| NM_001354747.1:c.1864G>T | NP_001341676.1:p.Asp622Tyr | |
| NM_001354748.1:c.1864G>T | NP_001341677.1:p.Asp622Tyr | |
| NM_001363619.1:c.1921G>T | NP_001350548.1:p.Asp641Tyr | |
| NR_148954.1:n.2451G>T | ||
| NR_148955.1:n.3087G>T | ||
| NR_148956.1:n.2377G>T | ||
| NR_148957.1:n.2606G>T | ||
| NR_148958.1:n.2354G>T | ||
| NR_148959.1:n.2280G>T | ||
| XM_005268976.3:c.2323G>T | XP_005269033.1:p.Asp775Tyr | |
| XM_017019469.1:c.2134G>T | XP_016874958.1:p.Asp712Tyr | |
| XM_024449020.1:c.2236G>T | XP_024304788.1:p.Asp746Tyr | |
| XM_024449021.1:c.2113G>T | XP_024304789.1:p.Asp705Tyr | |
| XM_024449022.1:c.2014G>T | XP_024304790.1:p.Asp672Tyr | |
| NM_001166687.2:c.2014G>T | NP_001160159.1:p.Asp672Tyr | |
| NM_001166688.2:c.2014G>T | NP_001160160.1:p.Asp672Tyr | |
| NM_001354741.2:c.2038G>T | NP_001341670.1:p.Asp680Tyr | |
| NM_001354742.2:c.2014G>T | NP_001341671.1:p.Asp672Tyr | |
| NM_001354743.2:c.2014G>T | NP_001341672.1:p.Asp672Tyr | |
| NM_001354744.2:c.2014G>T | NP_001341673.1:p.Asp672Tyr | |
| NM_001354745.2:c.1927G>T | NP_001341674.1:p.Asp643Tyr | |
| NM_001354746.2:c.1888G>T | NP_001341675.1:p.Asp630Tyr | |
| NM_001354747.2:c.1864G>T | NP_001341676.1:p.Asp622Tyr | |
| NM_001354748.2:c.1864G>T | NP_001341677.1:p.Asp622Tyr | |
| NM_001363619.2:c.1921G>T | NP_001350548.1:p.Asp641Tyr | |
| NR_148954.2:n.2317G>T | ||
| NR_148956.2:n.2243G>T | ||
| NR_148957.2:n.2472G>T | ||
| NR_148958.2:n.2220G>T | ||
| NR_148959.2:n.2146G>T |