Linked Data
ClinVar Variation Id:
1984754
ClinVar RCV Id:
RCV002775657
dbSNP Id:
rs1257900287
gnomAD v2:
5-176831541-C-T
gnomAD v4:
5-177404540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404540C>T , CM000667.2:g.177404540C>T | GRCh38 |
| NC_000005.9:g.176831541C>T , CM000667.1:g.176831541C>T | GRCh37 |
| NC_000005.8:g.176764147C>T | NCBI36 |
| NG_007568.1:g.10037G>A , LRG_145:g.10037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*425G>A (F12) | ENSP00000512476.1:n.*425G>A | |
| ENST00000696193.1:c.*1129G>A (F12) | ENSP00000512477.1:n.*1129G>A | |
| ENST00000696194.1:c.*349G>A (F12) | ENSP00000512478.1:n.*349G>A | |
| ENST00000696195.1:n.3562G>A (F12) | ||
| ENST00000696200.1:n.862G>A (F12) | ||
| ENST00000696201.1:c.759G>A (F12) | ENSP00000512482.1:p.Glu253= | |
| ENST00000253496.4:c.759G>A (F12) MANE Select | ENSP00000253496.3:p.Glu253= | |
| ENST00000253496.3:c.759G>A (F12) | ENSP00000253496.3:p.Glu253= | |
| ENST00000502598.5:c.-45+1014C>T (GRK6) | ENSP00000422873.1:n.-45+1014C>T | |
| ENST00000503736.1:n.173-127G>A (F12) | ||
| ENST00000506296.5:c.-62C>T (GRK6) | ENSP00000421055.1:n.-62C>T | |
| NM_000505.3:c.759G>A , LRG_145t1:c.759G>A (F12) | NP_000496.2:p.Glu253= | |
| XM_011534461.1:c.759G>A (F12) | XP_011532763.1:p.Glu253= | |
| XM_011534462.1:c.423G>A (F12) | XP_011532764.1:p.Glu141= | |
| XM_011534462.2:c.423G>A (F12) | XP_011532764.1:p.Glu141= | |
| XM_017009773.2:c.1417-7224C>T (SLC34A1) | XP_016865262.1:n.1417-7224C>T | |
| NM_000505.4:c.759G>A (F12) MANE Select | NP_000496.2:p.Glu253= |