Linked Data
ClinVar Variation Id:
3091406
ClinVar RCV Id:
RCV004385792
dbSNP Id:
rs556795861
gnomAD v3:
5-177404262-C-G
gnomAD v4:
5-177404262-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404262C>G , CM000667.2:g.177404262C>G | GRCh38 |
| NC_000005.9:g.176831263C>G , CM000667.1:g.176831263C>G | GRCh37 |
| NC_000005.8:g.176763869C>G | NCBI36 |
| NG_007568.1:g.10315G>C , LRG_145:g.10315G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*618G>C (F12) | ENSP00000512476.1:n.*618G>C | |
| ENST00000696193.1:c.*1322G>C (F12) | ENSP00000512477.1:n.*1322G>C | |
| ENST00000696194.1:c.*542G>C (F12) | ENSP00000512478.1:n.*542G>C | |
| ENST00000696195.1:n.3755G>C (F12) | ||
| ENST00000696200.1:n.1055G>C (F12) | ||
| ENST00000696201.1:c.952G>C (F12) | ENSP00000512482.1:p.Ala318Pro | |
| ENST00000253496.4:c.952G>C (F12) MANE Select | ENSP00000253496.3:p.Ala318Pro | |
| ENST00000253496.3:c.952G>C (F12) | ENSP00000253496.3:p.Ala318Pro | |
| ENST00000502598.5:c.-45+736C>G (GRK6) | ENSP00000422873.1:n.-45+736C>G | |
| ENST00000502854.5:n.211G>C (F12) | ||
| ENST00000503736.1:n.324G>C (F12) | ||
| ENST00000510358.5:n.211G>C (F12) | ||
| NM_000505.3:c.952G>C , LRG_145t1:c.952G>C (F12) | NP_000496.2:p.Ala318Pro | |
| XM_011534461.1:c.952G>C (F12) | XP_011532763.1:p.Ala318Pro | |
| XM_011534462.1:c.616G>C (F12) | XP_011532764.1:p.Ala206Pro | |
| XM_011534462.2:c.616G>C (F12) | XP_011532764.1:p.Ala206Pro | |
| XM_017009773.2:c.1416+7188C>G (SLC34A1) | XP_016865262.1:n.1416+7188C>G | |
| NM_000505.4:c.952G>C (F12) MANE Select | NP_000496.2:p.Ala318Pro |