Linked Data
ClinVar Variation Id:
1080283
ClinVar RCV Id:
RCV001395874
dbSNP Id:
rs778646151
ExAC:
4:187209615 G / A
gnomAD v2:
4-187209615-G-A
gnomAD v3:
4-186288461-G-A
gnomAD v4:
4-186288461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288461G>A , CM000666.2:g.186288461G>A | GRCh38 |
| NC_000004.11:g.187209615G>A , CM000666.1:g.187209615G>A | GRCh37 |
| NC_000004.10:g.187446609G>A | NCBI36 |
| NG_008051.1:g.27498G>A , LRG_583:g.27498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1725G>A (F11) MANE Select | ENSP00000384957.2:p.Ser575= | |
| ENST00000264691.4:c.325G>A (F11) | ||
| ENST00000264692.8:c.1563G>A (F11) | ENSP00000264692.5:p.Ser521= | |
| ENST00000403665.6:c.1725G>A (F11) | ENSP00000384957.2:p.Ser575= | |
| ENST00000503841.1:n.244G>A (F11) | ||
| NM_000128.3:c.1725G>A , LRG_583t1:c.1725G>A (F11) | NP_000119.1:p.Ser575= | |
| NR_033900.1:n.1033C>T (F11-AS1) | ||
| XM_005262821.2:c.1728G>A (F11) | XP_005262878.1:p.Ser576= | |
| XM_005262822.2:c.1632G>A (F11) | XP_005262879.1:p.Ser544= | |
| XM_005262823.2:c.1458G>A (F11) | XP_005262880.1:p.Ser486= | |
| XM_006714137.1:c.1680G>A (F11) | XP_006714200.1:p.Ser560= | |
| XM_005262821.4:c.1728G>A (F11) | XP_005262878.1:p.Ser576= | |
| XM_005262822.4:c.1632G>A (F11) | XP_005262879.1:p.Ser544= | |
| XM_005262823.4:c.1458G>A (F11) | XP_005262880.1:p.Ser486= | |
| XM_006714137.3:c.1680G>A (F11) | XP_006714200.1:p.Ser560= | |
| NM_000128.4:c.1725G>A (F11) MANE Select | NP_000119.1:p.Ser575= |