Revel Score:
ENST00000534884
0.129
ENST00000378682
0.129
ENST00000378684
0.129
ENST00000358062
0.129
ENST00000378677
0.129
ENST00000357033 (MANE Select)
0.129
ENST00000359836
0.129
ENST00000343523
0.129
ENST00000542849
0.129
ENST00000535280
0.129
ENST00000378707
0.129
ENST00000541735
0.129
ENST00000474231
0.129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478329C>A , CM000685.2:g.31478329C>A | GRCh38 |
| NC_000023.10:g.31496446C>A , CM000685.1:g.31496446C>A | GRCh37 |
| NC_000023.9:g.31406367C>A | NCBI36 |
| NG_012232.1:g.1866281G>T , LRG_199:g.1866281G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3560G>T | ENSP00000350765.3:p.Arg1187Leu | |
| ENST00000682238.1:c.1334G>T | ENSP00000508124.1:p.Arg445Leu | |
| ENST00000683450.1:n.2179G>T | ||
| ENST00000683957.1:n.2206G>T | ||
| ENST00000684130.1:c.1334G>T | ENSP00000508037.1:p.Arg445Leu | |
| ENST00000343523.7:c.569G>T | ENSP00000340057.4:p.Arg190Leu | |
| ENST00000357033.9:c.8714G>T MANE Select | ENSP00000354923.3:p.Arg2905Leu | |
| ENST00000619831.5:c.4682G>T | ENSP00000479270.2:p.Arg1561Leu | |
| ENST00000620040.5:c.1334G>T | ENSP00000478150.2:p.Arg445Leu | |
| ENST00000680961.1:c.1334G>T | ENSP00000506386.1:p.Arg445Leu | |
| ENST00000681646.1:n.2375G>T | ||
| ENST00000343523.6:c.527G>T | ENSP00000340057.3:p.Arg176Leu | |
| ENST00000357033.8:c.8714G>T | ENSP00000354923.3:p.Arg2905Leu | |
| ENST00000358062.6:c.1802G>T | ENSP00000350765.2:p.Arg601Leu | |
| ENST00000359836.5:c.1334G>T | ENSP00000352894.1:p.Arg445Leu | |
| ENST00000378677.6:c.8702G>T | ENSP00000367948.2:p.Arg2901Leu | |
| ENST00000378707.7:c.1334G>T | ENSP00000367979.3:p.Arg445Leu | |
| ENST00000445312.1:n.771G>T | ||
| ENST00000474231.5:c.1334G>T | ENSP00000417123.1:p.Arg445Leu | |
| ENST00000541735.5:c.1334G>T | ENSP00000444119.1:p.Arg445Leu | |
| ENST00000619831.4:c.8699G>T | ENSP00000479270.1:p.Arg2900Leu | |
| ENST00000620040.4:c.8711G>T | ENSP00000478150.1:p.Arg2904Leu | |
| NM_000109.3:c.8690G>T | NP_000100.2:p.Arg2897Leu | |
| NM_004006.2:c.8714G>T , LRG_199t1:c.8714G>T | NP_003997.1:p.Arg2905Leu | |
| NM_004009.3:c.8702G>T | NP_004000.1:p.Arg2901Leu | |
| NM_004010.3:c.8345G>T | NP_004001.1:p.Arg2782Leu | |
| NM_004011.3:c.4691G>T | NP_004002.2:p.Arg1564Leu | |
| NM_004012.3:c.4682G>T | NP_004003.1:p.Arg1561Leu | |
| NM_004013.2:c.1334G>T | NP_004004.1:p.Arg445Leu | |
| NM_004014.2:c.527G>T | NP_004005.1:p.Arg176Leu | |
| NM_004020.3:c.1334G>T | NP_004011.2:p.Arg445Leu | |
| NM_004021.2:c.1334G>T | NP_004012.1:p.Arg445Leu | |
| NM_004022.2:c.1334G>T | NP_004013.1:p.Arg445Leu | |
| NM_004023.2:c.1334G>T | NP_004014.1:p.Arg445Leu | |
| XM_006724468.2:c.8714G>T | XP_006724531.1:p.Arg2905Leu | |
| XM_006724469.2:c.8690G>T | XP_006724532.1:p.Arg2897Leu | |
| XM_006724470.2:c.8714G>T | XP_006724533.1:p.Arg2905Leu | |
| XM_006724471.2:c.8714G>T | XP_006724534.1:p.Arg2905Leu | |
| XM_006724472.2:c.8585G>T | XP_006724535.1:p.Arg2862Leu | |
| XM_006724473.2:c.8576G>T | XP_006724536.1:p.Arg2859Leu | |
| XM_006724474.2:c.8714G>T | XP_006724537.1:p.Arg2905Leu | |
| XM_006724475.2:c.8714G>T | XP_006724538.1:p.Arg2905Leu | |
| XM_011545467.1:c.8591G>T | XP_011543769.1:p.Arg2864Leu | |
| XM_011545468.1:c.8714G>T | XP_011543770.1:p.Arg2905Leu | |
| XM_006724469.3:c.8690G>T | XP_006724532.1:p.Arg2897Leu | |
| XM_006724470.3:c.8714G>T | XP_006724533.1:p.Arg2905Leu | |
| XM_006724474.3:c.8714G>T | XP_006724537.1:p.Arg2905Leu | |
| XM_011545468.2:c.8714G>T | XP_011543770.1:p.Arg2905Leu | |
| XM_017029328.1:c.8714G>T | XP_016884817.1:p.Arg2905Leu | |
| XM_017029331.1:c.2888G>T | XP_016884820.1:p.Arg963Leu | |
| NM_000109.4:c.8690G>T | NP_000100.3:p.Arg2897Leu | |
| NM_004006.3:c.8714G>T MANE Select | NP_003997.2:p.Arg2905Leu | |
| NM_004011.4:c.4691G>T | NP_004002.3:p.Arg1564Leu | |
| NM_004012.4:c.4682G>T | NP_004003.2:p.Arg1561Leu | |
| NM_004021.3:c.1334G>T | NP_004012.2:p.Arg445Leu | |
| NM_004023.3:c.1334G>T | NP_004014.2:p.Arg445Leu | |
| NM_004013.3:c.1334G>T | NP_004004.2:p.Arg445Leu | |
| NM_004014.3:c.527G>T | NP_004005.2:p.Arg176Leu | |
| NM_004020.4:c.1334G>T | NP_004011.3:p.Arg445Leu | |
| NM_004022.3:c.1334G>T | NP_004013.2:p.Arg445Leu |