Linked Data
dbSNP Id:
rs763932687
ExAC:
5:176831243 C / T
gnomAD v2:
5-176831243-C-T
gnomAD v4:
5-177404242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404242C>T , CM000667.2:g.177404242C>T | GRCh38 |
| NC_000005.9:g.176831243C>T , CM000667.1:g.176831243C>T | GRCh37 |
| NC_000005.8:g.176763849C>T | NCBI36 |
| NG_007568.1:g.10335G>A , LRG_145:g.10335G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696192.1:c.*638G>A (F12) | ENSP00000512476.1:n.*638G>A | |
| ENST00000696193.1:c.*1342G>A (F12) | ENSP00000512477.1:n.*1342G>A | |
| ENST00000696194.1:c.*562G>A (F12) | ENSP00000512478.1:n.*562G>A | |
| ENST00000696195.1:n.3775G>A (F12) | ||
| ENST00000696200.1:n.1075G>A (F12) | ||
| ENST00000696201.1:c.972G>A (F12) | ENSP00000512482.1:p.Lys324= | |
| ENST00000253496.4:c.972G>A (F12) MANE Select | ENSP00000253496.3:p.Lys324= | |
| ENST00000253496.3:c.972G>A (F12) | ENSP00000253496.3:p.Lys324= | |
| ENST00000502598.5:c.-45+716C>T (GRK6) | ENSP00000422873.1:n.-45+716C>T | |
| ENST00000502854.5:n.231G>A (F12) | ||
| ENST00000503736.1:n.344G>A (F12) | ||
| ENST00000510358.5:n.231G>A (F12) | ||
| NM_000505.3:c.972G>A , LRG_145t1:c.972G>A (F12) | NP_000496.2:p.Lys324= | |
| XM_011534461.1:c.972G>A (F12) | XP_011532763.1:p.Lys324= | |
| XM_011534462.1:c.636G>A (F12) | XP_011532764.1:p.Lys212= | |
| XM_011534462.2:c.636G>A (F12) | XP_011532764.1:p.Lys212= | |
| XM_017009773.2:c.1416+7168C>T (SLC34A1) | XP_016865262.1:n.1416+7168C>T | |
| NM_000505.4:c.972G>A (F12) MANE Select | NP_000496.2:p.Lys324= |