MyVariant.info:
GRCh37
chr4:g.187209669G>A
Revel Score:
ENST00000264691
0.044
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288515G>A , CM000666.2:g.186288515G>A | GRCh38 |
| NC_000004.11:g.187209669G>A , CM000666.1:g.187209669G>A | GRCh37 |
| NC_000004.10:g.187446663G>A | NCBI36 |
| NG_008051.1:g.27552G>A , LRG_583:g.27552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1779G>A (F11) MANE Select | ENSP00000384957.2:p.Thr593= | |
| ENST00000264691.4:c.379G>A (F11) | ||
| ENST00000264692.8:c.1617G>A (F11) | ENSP00000264692.5:p.Thr539= | |
| ENST00000403665.6:c.1779G>A (F11) | ENSP00000384957.2:p.Thr593= | |
| ENST00000503841.1:n.298G>A (F11) | ||
| NM_000128.3:c.1779G>A , LRG_583t1:c.1779G>A (F11) | NP_000119.1:p.Thr593= | |
| NR_033900.1:n.979C>T (F11-AS1) | ||
| XM_005262821.2:c.1782G>A (F11) | XP_005262878.1:p.Thr594= | |
| XM_005262822.2:c.1686G>A (F11) | XP_005262879.1:p.Thr562= | |
| XM_005262823.2:c.1512G>A (F11) | XP_005262880.1:p.Thr504= | |
| XM_006714137.1:c.1734G>A (F11) | XP_006714200.1:p.Thr578= | |
| XM_005262821.4:c.1782G>A (F11) | XP_005262878.1:p.Thr594= | |
| XM_005262822.4:c.1686G>A (F11) | XP_005262879.1:p.Thr562= | |
| XM_005262823.4:c.1512G>A (F11) | XP_005262880.1:p.Thr504= | |
| XM_006714137.3:c.1734G>A (F11) | XP_006714200.1:p.Thr578= | |
| NM_000128.4:c.1779G>A (F11) MANE Select | NP_000119.1:p.Thr593= |