Linked Data
dbSNP Id:
rs750622854
gnomAD v2:
4-187208887-C-A
gnomAD v3:
4-186287733-C-A
gnomAD v4:
4-186287733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287733C>A , CM000666.2:g.186287733C>A | GRCh38 |
| NC_000004.11:g.187208887C>A , CM000666.1:g.187208887C>A | GRCh37 |
| NC_000004.10:g.187445881C>A | NCBI36 |
| NG_008051.1:g.26770C>A , LRG_583:g.26770C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1626C>A (F11) MANE Select | ENSP00000384957.2:p.Asn542Lys | |
| ENST00000264691.4:c.226C>A (F11) | ||
| ENST00000264692.8:c.1464C>A (F11) | ENSP00000264692.5:p.Asn488Lys | |
| ENST00000403665.6:c.1626C>A (F11) | ENSP00000384957.2:p.Asn542Lys | |
| ENST00000503841.1:n.145C>A (F11) | ||
| NM_000128.3:c.1626C>A , LRG_583t1:c.1626C>A (F11) | NP_000119.1:p.Asn542Lys | |
| NR_033900.1:n.1066+695G>T (F11-AS1) | ||
| XM_005262821.2:c.1629C>A (F11) | XP_005262878.1:p.Asn543Lys | |
| XM_005262822.2:c.1533C>A (F11) | XP_005262879.1:p.Asn511Lys | |
| XM_005262823.2:c.1359C>A (F11) | XP_005262880.1:p.Asn453Lys | |
| XM_006714137.1:c.1581C>A (F11) | XP_006714200.1:p.Asn527Lys | |
| XR_938707.1:n.1938C>A (F11) | ||
| XM_005262821.4:c.1629C>A (F11) | XP_005262878.1:p.Asn543Lys | |
| XM_005262822.4:c.1533C>A (F11) | XP_005262879.1:p.Asn511Lys | |
| XM_005262823.4:c.1359C>A (F11) | XP_005262880.1:p.Asn453Lys | |
| XM_006714137.3:c.1581C>A (F11) | XP_006714200.1:p.Asn527Lys | |
| NM_000128.4:c.1626C>A (F11) MANE Select | NP_000119.1:p.Asn542Lys |