Linked Data
ClinVar Variation Id:
2463318
dbSNP Id:
rs749889059
ExAC:
5:176831031 C / A
gnomAD v2:
5-176831031-C-A
gnomAD v3:
5-177404030-C-A
gnomAD v4:
5-177404030-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404030C>A , CM000667.2:g.177404030C>A | GRCh38 |
| NC_000005.9:g.176831031C>A , CM000667.1:g.176831031C>A | GRCh37 |
| NC_000005.8:g.176763637C>A | NCBI36 |
| NG_007568.1:g.10547G>T , LRG_145:g.10547G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*745G>T (F12) | ENSP00000512476.1:n.*745G>T | |
| ENST00000696193.1:c.*1466G>T (F12) | ENSP00000512477.1:n.*1466G>T | |
| ENST00000696194.1:c.*669G>T (F12) | ENSP00000512478.1:n.*669G>T | |
| ENST00000696195.1:n.3882G>T (F12) | ||
| ENST00000696200.1:n.1182G>T (F12) | ||
| ENST00000696201.1:c.1079G>T (F12) | ENSP00000512482.1:p.Gly360Val | |
| ENST00000253496.4:c.1079G>T (F12) MANE Select | ENSP00000253496.3:p.Gly360Val | |
| ENST00000253496.3:c.1079G>T (F12) | ENSP00000253496.3:p.Gly360Val | |
| ENST00000502598.5:c.-45+504C>A (GRK6) | ENSP00000422873.1:n.-45+504C>A | |
| ENST00000502854.5:n.338G>T (F12) | ||
| ENST00000503736.1:n.451G>T (F12) | ||
| ENST00000510358.5:n.443G>T (F12) | ||
| NM_000505.3:c.1079G>T , LRG_145t1:c.1079G>T (F12) | NP_000496.2:p.Gly360Val | |
| XM_011534461.1:c.1079G>T (F12) | XP_011532763.1:p.Gly360Val | |
| XM_011534462.1:c.743G>T (F12) | XP_011532764.1:p.Gly248Val | |
| XM_011534462.2:c.743G>T (F12) | XP_011532764.1:p.Gly248Val | |
| XM_017009773.2:c.1416+6956C>A (SLC34A1) | XP_016865262.1:n.1416+6956C>A | |
| NM_000505.4:c.1079G>T (F12) MANE Select | NP_000496.2:p.Gly360Val |