Linked Data
ClinVar Variation Id:
1952462
ClinVar RCV Id:
RCV002676994
MyVariant Identifiers:
chr4:g.187209678C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288524C>A , CM000666.2:g.186288524C>A | GRCh38 |
| NC_000004.11:g.187209678C>A , CM000666.1:g.187209678C>A | GRCh37 |
| NC_000004.10:g.187446672C>A | NCBI36 |
| NG_008051.1:g.27561C>A , LRG_583:g.27561C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1788C>A (F11) MANE Select | ENSP00000384957.2:p.Gly596= | |
| ENST00000264691.4:c.388C>A (F11) | ||
| ENST00000264692.8:c.1626C>A (F11) | ENSP00000264692.5:p.Gly542= | |
| ENST00000403665.6:c.1788C>A (F11) | ENSP00000384957.2:p.Gly596= | |
| ENST00000503841.1:n.307C>A (F11) | ||
| NM_000128.3:c.1788C>A , LRG_583t1:c.1788C>A (F11) | NP_000119.1:p.Gly596= | |
| NR_033900.1:n.970G>T (F11-AS1) | ||
| XM_005262821.2:c.1791C>A (F11) | XP_005262878.1:p.Gly597= | |
| XM_005262822.2:c.1695C>A (F11) | XP_005262879.1:p.Gly565= | |
| XM_005262823.2:c.1521C>A (F11) | XP_005262880.1:p.Gly507= | |
| XM_006714137.1:c.1743C>A (F11) | XP_006714200.1:p.Gly581= | |
| XM_005262821.4:c.1791C>A (F11) | XP_005262878.1:p.Gly597= | |
| XM_005262822.4:c.1695C>A (F11) | XP_005262879.1:p.Gly565= | |
| XM_005262823.4:c.1521C>A (F11) | XP_005262880.1:p.Gly507= | |
| XM_006714137.3:c.1743C>A (F11) | XP_006714200.1:p.Gly581= | |
| NM_000128.4:c.1788C>A (F11) MANE Select | NP_000119.1:p.Gly596= |