Linked Data
dbSNP Id:
rs775924302
ExAC:
5:176831132 G / C
gnomAD v2:
5-176831132-G-C
gnomAD v3:
5-177404131-G-C
gnomAD v4:
5-177404131-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404131G>C , CM000667.2:g.177404131G>C | GRCh38 |
| NC_000005.9:g.176831132G>C , CM000667.1:g.176831132G>C | GRCh37 |
| NC_000005.8:g.176763738G>C | NCBI36 |
| NG_007568.1:g.10446C>G , LRG_145:g.10446C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696192.1:c.*685-41C>G (F12) | ENSP00000512476.1:n.*685-41C>G | |
| ENST00000696193.1:c.*1389-24C>G (F12) | ENSP00000512477.1:n.*1389-24C>G | |
| ENST00000696194.1:c.*609-41C>G (F12) | ENSP00000512478.1:n.*609-41C>G | |
| ENST00000696195.1:n.3822-41C>G (F12) | ||
| ENST00000696200.1:n.1122-41C>G (F12) | ||
| ENST00000696201.1:c.1019-41C>G (F12) | ENSP00000512482.1:n.1019-41C>G | |
| ENST00000253496.4:c.1019-41C>G (F12) MANE Select | ENSP00000253496.3:n.1019-41C>G | |
| ENST00000253496.3:c.1019-41C>G (F12) | ENSP00000253496.3:n.1019-41C>G | |
| ENST00000502598.5:c.-45+605G>C (GRK6) | ENSP00000422873.1:n.-45+605G>C | |
| ENST00000502854.5:n.278-41C>G (F12) | ||
| ENST00000503736.1:n.391-41C>G (F12) | ||
| ENST00000510358.5:n.342C>G (F12) | ||
| NM_000505.3:c.1019-41C>G , LRG_145t1:c.1019-41C>G (F12) | NP_000496.2:n.1019-41C>G | |
| XM_011534461.1:c.1019-41C>G (F12) | XP_011532763.1:n.1019-41C>G | |
| XM_011534462.1:c.683-41C>G (F12) | XP_011532764.1:n.683-41C>G | |
| XM_011534462.2:c.683-41C>G (F12) | XP_011532764.1:n.683-41C>G | |
| XM_017009773.2:c.1416+7057G>C (SLC34A1) | XP_016865262.1:n.1416+7057G>C | |
| NM_000505.4:c.1019-41C>G (F12) MANE Select | NP_000496.2:n.1019-41C>G |