Linked Data
ClinVar Variation Id:
2960640
ClinVar RCV Id:
RCV003817375
MyVariant Identifiers:
chr4:g.187209625C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288471C>T , CM000666.2:g.186288471C>T | GRCh38 |
| NC_000004.11:g.187209625C>T , CM000666.1:g.187209625C>T | GRCh37 |
| NC_000004.10:g.187446619C>T | NCBI36 |
| NG_008051.1:g.27508C>T , LRG_583:g.27508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1735C>T (F11) MANE Select | ENSP00000384957.2:p.Leu579= | |
| ENST00000264691.4:c.335C>T (F11) | ||
| ENST00000264692.8:c.1573C>T (F11) | ENSP00000264692.5:p.Leu525= | |
| ENST00000403665.6:c.1735C>T (F11) | ENSP00000384957.2:p.Leu579= | |
| ENST00000503841.1:n.254C>T (F11) | ||
| NM_000128.3:c.1735C>T , LRG_583t1:c.1735C>T (F11) | NP_000119.1:p.Leu579= | |
| NR_033900.1:n.1023G>A (F11-AS1) | ||
| XM_005262821.2:c.1738C>T (F11) | XP_005262878.1:p.Leu580= | |
| XM_005262822.2:c.1642C>T (F11) | XP_005262879.1:p.Leu548= | |
| XM_005262823.2:c.1468C>T (F11) | XP_005262880.1:p.Leu490= | |
| XM_006714137.1:c.1690C>T (F11) | XP_006714200.1:p.Leu564= | |
| XM_005262821.4:c.1738C>T (F11) | XP_005262878.1:p.Leu580= | |
| XM_005262822.4:c.1642C>T (F11) | XP_005262879.1:p.Leu548= | |
| XM_005262823.4:c.1468C>T (F11) | XP_005262880.1:p.Leu490= | |
| XM_006714137.3:c.1690C>T (F11) | XP_006714200.1:p.Leu564= | |
| NM_000128.4:c.1735C>T (F11) MANE Select | NP_000119.1:p.Leu579= |