Linked Data
ClinVar Variation Id:
1157246
ClinVar RCV Id:
RCV001500263
dbSNP Id:
rs772323988
ExAC:
4:187209720 C / T
gnomAD v2:
4-187209720-C-T
gnomAD v3:
4-186288566-C-T
gnomAD v4:
4-186288566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288566C>T , CM000666.2:g.186288566C>T | GRCh38 |
| NC_000004.11:g.187209720C>T , CM000666.1:g.187209720C>T | GRCh37 |
| NC_000004.10:g.187446714C>T | NCBI36 |
| NG_008051.1:g.27603C>T , LRG_583:g.27603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1830C>T (F11) MANE Select | ENSP00000384957.2:p.Asn610= | |
| ENST00000264691.4:c.430C>T (F11) | ||
| ENST00000264692.8:c.1668C>T (F11) | ENSP00000264692.5:p.Asn556= | |
| ENST00000403665.6:c.1830C>T (F11) | ENSP00000384957.2:p.Asn610= | |
| ENST00000503841.1:n.349C>T (F11) | ||
| NM_000128.3:c.1830C>T , LRG_583t1:c.1830C>T (F11) | NP_000119.1:p.Asn610= | |
| NR_033900.1:n.928G>A (F11-AS1) | ||
| XM_005262821.2:c.1833C>T (F11) | XP_005262878.1:p.Asn611= | |
| XM_005262822.2:c.1737C>T (F11) | XP_005262879.1:p.Asn579= | |
| XM_005262823.2:c.1563C>T (F11) | XP_005262880.1:p.Asn521= | |
| XM_006714137.1:c.1785C>T (F11) | XP_006714200.1:p.Asn595= | |
| XM_005262821.4:c.1833C>T (F11) | XP_005262878.1:p.Asn611= | |
| XM_005262822.4:c.1737C>T (F11) | XP_005262879.1:p.Asn579= | |
| XM_005262823.4:c.1563C>T (F11) | XP_005262880.1:p.Asn521= | |
| XM_006714137.3:c.1785C>T (F11) | XP_006714200.1:p.Asn595= | |
| NM_000128.4:c.1830C>T (F11) MANE Select | NP_000119.1:p.Asn610= |