Linked Data
dbSNP Id:
rs1561492409
gnomAD v2:
4-187208933-A-G
gnomAD v3:
4-186287779-A-G
gnomAD v4:
4-186287779-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287779A>G , CM000666.2:g.186287779A>G | GRCh38 |
| NC_000004.11:g.187208933A>G , CM000666.1:g.187208933A>G | GRCh37 |
| NC_000004.10:g.187445927A>G | NCBI36 |
| NG_008051.1:g.26816A>G , LRG_583:g.26816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1672A>G (F11) MANE Select | ENSP00000384957.2:p.Met558Val | |
| ENST00000264691.4:c.272A>G (F11) | ||
| ENST00000264692.8:c.1510A>G (F11) | ENSP00000264692.5:p.Met504Val | |
| ENST00000403665.6:c.1672A>G (F11) | ENSP00000384957.2:p.Met558Val | |
| ENST00000503841.1:n.191A>G (F11) | ||
| NM_000128.3:c.1672A>G , LRG_583t1:c.1672A>G (F11) | NP_000119.1:p.Met558Val | |
| NR_033900.1:n.1066+649T>C (F11-AS1) | ||
| XM_005262821.2:c.1675A>G (F11) | XP_005262878.1:p.Met559Val | |
| XM_005262822.2:c.1579A>G (F11) | XP_005262879.1:p.Met527Val | |
| XM_005262823.2:c.1405A>G (F11) | XP_005262880.1:p.Met469Val | |
| XM_006714137.1:c.1627A>G (F11) | XP_006714200.1:p.Met543Val | |
| XM_005262821.4:c.1675A>G (F11) | XP_005262878.1:p.Met559Val | |
| XM_005262822.4:c.1579A>G (F11) | XP_005262879.1:p.Met527Val | |
| XM_005262823.4:c.1405A>G (F11) | XP_005262880.1:p.Met469Val | |
| XM_006714137.3:c.1627A>G (F11) | XP_006714200.1:p.Met543Val | |
| NM_000128.4:c.1672A>G (F11) MANE Select | NP_000119.1:p.Met558Val |