Revel Score:
ENST00000398860
0.831
ENST00000398855
0.831
ENST00000224721 (MANE Select)
0.831
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793532G>T , CM000672.2:g.71793532G>T | GRCh38 |
| NC_000010.10:g.73553289G>T , CM000672.1:g.73553289G>T | GRCh37 |
| NC_000010.9:g.73223295G>T | NCBI36 |
| NG_008835.1:g.401586G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6604G>T MANE Select | ENSP00000224721.9:p.Asp2202Tyr | |
| ENST00000224721.10:c.6619G>T | ENSP00000224721.8:p.Asp2207Tyr | |
| ENST00000622827.4:c.6604G>T | ENSP00000483211.1:p.Asp2202Tyr | |
| NM_022124.5:c.6604G>T | NP_071407.4:p.Asp2202Tyr | |
| XM_006717940.2:c.6799G>T | XP_006718003.1:p.Asp2267Tyr | |
| XM_006717942.2:c.6733G>T | XP_006718005.1:p.Asp2245Tyr | |
| XM_011540039.1:c.6796G>T | XP_011538341.1:p.Asp2266Tyr | |
| XM_011540040.1:c.6793G>T | XP_011538342.1:p.Asp2265Tyr | |
| XM_011540041.1:c.6739G>T | XP_011538343.1:p.Asp2247Tyr | |
| XM_011540042.1:c.6709G>T | XP_011538344.1:p.Asp2237Tyr | |
| XM_011540043.1:c.6799G>T | XP_011538345.1:p.Asp2267Tyr | |
| XM_011540044.1:c.6664G>T | XP_011538346.1:p.Asp2222Tyr | |
| XM_011540045.1:c.6799G>T | XP_011538347.1:p.Asp2267Tyr | |
| XM_011540046.1:c.6259G>T | XP_011538348.1:p.Asp2087Tyr | |
| XM_011540047.1:c.5617G>T | XP_011538349.1:p.Asp1873Tyr | |
| XM_011540048.1:c.6799G>T | XP_011538350.1:p.Asp2267Tyr | |
| XM_011540049.1:c.6799G>T | XP_011538351.1:p.Asp2267Tyr | |
| XM_011540050.1:c.6799G>T | XP_011538352.1:p.Asp2267Tyr | |
| XM_011540051.1:c.6799G>T | XP_011538353.1:p.Asp2267Tyr | |
| XM_011540052.1:c.3127G>T | XP_011538354.1:p.Asp1043Tyr | |
| XR_945796.1:n.7042G>T | ||
| NM_022124.6:c.6604G>T MANE Select | NP_071407.4:p.Asp2202Tyr |