Linked Data
ClinVar Variation Id:
370342
ClinVar RCV Id:
RCV000411308
dbSNP Id:
rs281875251
gnomAD v4:
4-186288525-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288525G>T , CM000666.2:g.186288525G>T | GRCh38 |
| NC_000004.11:g.187209679G>T , CM000666.1:g.187209679G>T | GRCh37 |
| NC_000004.10:g.187446673G>T | NCBI36 |
| NG_008051.1:g.27562G>T , LRG_583:g.27562G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1789G>T (F11) MANE Select | ENSP00000384957.2:p.Glu597Ter | |
| ENST00000264691.4:c.389G>T (F11) | ||
| ENST00000264692.8:c.1627G>T (F11) | ENSP00000264692.5:p.Glu543Ter | |
| ENST00000403665.6:c.1789G>T (F11) | ENSP00000384957.2:p.Glu597Ter | |
| ENST00000503841.1:n.308G>T (F11) | ||
| NM_000128.3:c.1789G>T , LRG_583t1:c.1789G>T (F11) | NP_000119.1:p.Glu597Ter | |
| NR_033900.1:n.969C>A (F11-AS1) | ||
| XM_005262821.2:c.1792G>T (F11) | XP_005262878.1:p.Glu598Ter | |
| XM_005262822.2:c.1696G>T (F11) | XP_005262879.1:p.Glu566Ter | |
| XM_005262823.2:c.1522G>T (F11) | XP_005262880.1:p.Glu508Ter | |
| XM_006714137.1:c.1744G>T (F11) | XP_006714200.1:p.Glu582Ter | |
| XM_005262821.4:c.1792G>T (F11) | XP_005262878.1:p.Glu598Ter | |
| XM_005262822.4:c.1696G>T (F11) | XP_005262879.1:p.Glu566Ter | |
| XM_005262823.4:c.1522G>T (F11) | XP_005262880.1:p.Glu508Ter | |
| XM_006714137.3:c.1744G>T (F11) | XP_006714200.1:p.Glu582Ter | |
| NM_000128.4:c.1789G>T (F11) MANE Select | NP_000119.1:p.Glu597Ter |