Linked Data
ClinVar Variation Id:
2077756
dbSNP Id:
rs759948258
ExAC:
5:176830985 G / C
gnomAD v2:
5-176830985-G-C
gnomAD v3:
5-177403984-G-C
gnomAD v4:
5-177403984-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177403984G>C , CM000667.2:g.177403984G>C | GRCh38 |
| NC_000005.9:g.176830985G>C , CM000667.1:g.176830985G>C | GRCh37 |
| NC_000005.8:g.176763591G>C | NCBI36 |
| NG_007568.1:g.10593C>G , LRG_145:g.10593C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*791C>G (F12) | ENSP00000512476.1:n.*791C>G | |
| ENST00000696193.1:c.*1512C>G (F12) | ENSP00000512477.1:n.*1512C>G | |
| ENST00000696194.1:c.*715C>G (F12) | ENSP00000512478.1:n.*715C>G | |
| ENST00000696195.1:n.3928C>G (F12) | ||
| ENST00000696200.1:n.1228C>G (F12) | ||
| ENST00000696201.1:c.1125C>G (F12) | ENSP00000512482.1:p.Gly375= | |
| ENST00000253496.4:c.1125C>G (F12) MANE Select | ENSP00000253496.3:p.Gly375= | |
| ENST00000253496.3:c.1125C>G (F12) | ENSP00000253496.3:p.Gly375= | |
| ENST00000502598.5:c.-45+458G>C (GRK6) | ENSP00000422873.1:n.-45+458G>C | |
| ENST00000502854.5:n.384C>G (F12) | ||
| ENST00000503736.1:n.497C>G (F12) | ||
| ENST00000510358.5:n.489C>G (F12) | ||
| NM_000505.3:c.1125C>G , LRG_145t1:c.1125C>G (F12) | NP_000496.2:p.Gly375= | |
| XM_011534461.1:c.1125C>G (F12) | XP_011532763.1:p.Gly375= | |
| XM_011534462.1:c.789C>G (F12) | XP_011532764.1:p.Gly263= | |
| XM_011534462.2:c.789C>G (F12) | XP_011532764.1:p.Gly263= | |
| XM_017009773.2:c.1416+6910G>C (SLC34A1) | XP_016865262.1:n.1416+6910G>C | |
| NM_000505.4:c.1125C>G (F12) MANE Select | NP_000496.2:p.Gly375= |