MyVariant.info:
GRCh37
chrX:g.31496445T>C
Revel Score:
ENST00000465285
0.077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478328T>C , CM000685.2:g.31478328T>C | GRCh38 |
| NC_000023.10:g.31496445T>C , CM000685.1:g.31496445T>C | GRCh37 |
| NC_000023.9:g.31406366T>C | NCBI36 |
| NG_012232.1:g.1866282A>G , LRG_199:g.1866282A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3561A>G | ENSP00000350765.3:p.Arg1187= | |
| ENST00000682238.1:c.1335A>G | ENSP00000508124.1:p.Arg445= | |
| ENST00000683450.1:n.2180A>G | ||
| ENST00000683957.1:n.2207A>G | ||
| ENST00000684130.1:c.1335A>G | ENSP00000508037.1:p.Arg445= | |
| ENST00000343523.7:c.570A>G | ENSP00000340057.4:p.Arg190= | |
| ENST00000357033.9:c.8715A>G MANE Select | ENSP00000354923.3:p.Arg2905= | |
| ENST00000619831.5:c.4683A>G | ENSP00000479270.2:p.Arg1561= | |
| ENST00000620040.5:c.1335A>G | ENSP00000478150.2:p.Arg445= | |
| ENST00000680961.1:c.1335A>G | ENSP00000506386.1:p.Arg445= | |
| ENST00000681646.1:n.2376A>G | ||
| ENST00000343523.6:c.528A>G | ENSP00000340057.3:p.Arg176= | |
| ENST00000357033.8:c.8715A>G | ENSP00000354923.3:p.Arg2905= | |
| ENST00000358062.6:c.1803A>G | ENSP00000350765.2:p.Arg601= | |
| ENST00000359836.5:c.1335A>G | ENSP00000352894.1:p.Arg445= | |
| ENST00000378677.6:c.8703A>G | ENSP00000367948.2:p.Arg2901= | |
| ENST00000378707.7:c.1335A>G | ENSP00000367979.3:p.Arg445= | |
| ENST00000445312.1:n.772A>G | ||
| ENST00000474231.5:c.1335A>G | ENSP00000417123.1:p.Arg445= | |
| ENST00000541735.5:c.1335A>G | ENSP00000444119.1:p.Arg445= | |
| ENST00000619831.4:c.8700A>G | ENSP00000479270.1:p.Arg2900= | |
| ENST00000620040.4:c.8712A>G | ENSP00000478150.1:p.Arg2904= | |
| NM_000109.3:c.8691A>G | NP_000100.2:p.Arg2897= | |
| NM_004006.2:c.8715A>G , LRG_199t1:c.8715A>G | NP_003997.1:p.Arg2905= | |
| NM_004009.3:c.8703A>G | NP_004000.1:p.Arg2901= | |
| NM_004010.3:c.8346A>G | NP_004001.1:p.Arg2782= | |
| NM_004011.3:c.4692A>G | NP_004002.2:p.Arg1564= | |
| NM_004012.3:c.4683A>G | NP_004003.1:p.Arg1561= | |
| NM_004013.2:c.1335A>G | NP_004004.1:p.Arg445= | |
| NM_004014.2:c.528A>G | NP_004005.1:p.Arg176= | |
| NM_004020.3:c.1335A>G | NP_004011.2:p.Arg445= | |
| NM_004021.2:c.1335A>G | NP_004012.1:p.Arg445= | |
| NM_004022.2:c.1335A>G | NP_004013.1:p.Arg445= | |
| NM_004023.2:c.1335A>G | NP_004014.1:p.Arg445= | |
| XM_006724468.2:c.8715A>G | XP_006724531.1:p.Arg2905= | |
| XM_006724469.2:c.8691A>G | XP_006724532.1:p.Arg2897= | |
| XM_006724470.2:c.8715A>G | XP_006724533.1:p.Arg2905= | |
| XM_006724471.2:c.8715A>G | XP_006724534.1:p.Arg2905= | |
| XM_006724472.2:c.8586A>G | XP_006724535.1:p.Arg2862= | |
| XM_006724473.2:c.8577A>G | XP_006724536.1:p.Arg2859= | |
| XM_006724474.2:c.8715A>G | XP_006724537.1:p.Arg2905= | |
| XM_006724475.2:c.8715A>G | XP_006724538.1:p.Arg2905= | |
| XM_011545467.1:c.8592A>G | XP_011543769.1:p.Arg2864= | |
| XM_011545468.1:c.8715A>G | XP_011543770.1:p.Arg2905= | |
| XM_006724469.3:c.8691A>G | XP_006724532.1:p.Arg2897= | |
| XM_006724470.3:c.8715A>G | XP_006724533.1:p.Arg2905= | |
| XM_006724474.3:c.8715A>G | XP_006724537.1:p.Arg2905= | |
| XM_011545468.2:c.8715A>G | XP_011543770.1:p.Arg2905= | |
| XM_017029328.1:c.8715A>G | XP_016884817.1:p.Arg2905= | |
| XM_017029331.1:c.2889A>G | XP_016884820.1:p.Arg963= | |
| NM_000109.4:c.8691A>G | NP_000100.3:p.Arg2897= | |
| NM_004006.3:c.8715A>G MANE Select | NP_003997.2:p.Arg2905= | |
| NM_004011.4:c.4692A>G | NP_004002.3:p.Arg1564= | |
| NM_004012.4:c.4683A>G | NP_004003.2:p.Arg1561= | |
| NM_004021.3:c.1335A>G | NP_004012.2:p.Arg445= | |
| NM_004023.3:c.1335A>G | NP_004014.2:p.Arg445= | |
| NM_004013.3:c.1335A>G | NP_004004.2:p.Arg445= | |
| NM_004014.3:c.528A>G | NP_004005.2:p.Arg176= | |
| NM_004020.4:c.1335A>G | NP_004011.3:p.Arg445= | |
| NM_004022.3:c.1335A>G | NP_004013.2:p.Arg445= |