Linked Data
ClinVar Variation Id:
1168
dbSNP Id:
rs118204455
gnomAD v3:
5-177406019-T-C
gnomAD v4:
5-177406019-T-C
PubMed:
PMID:10361128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177406019T>C , CM000667.2:g.177406019T>C | GRCh38 |
| NC_000005.9:g.176833020T>C , CM000667.1:g.176833020T>C | GRCh37 |
| NC_000005.8:g.176765626T>C | NCBI36 |
| NG_007568.1:g.8558A>G , LRG_145:g.8558A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696192.1:c.158A>G (F12) | ENSP00000512476.1:p.Tyr53Cys | |
| ENST00000696193.1:c.*82A>G (F12) | ENSP00000512477.1:n.*82A>G | |
| ENST00000696194.1:c.158A>G (F12) | ENSP00000512478.1:p.Tyr53Cys | |
| ENST00000696195.1:n.2515A>G (F12) | ||
| ENST00000696200.1:n.261A>G (F12) | ||
| ENST00000696201.1:c.158A>G (F12) | ENSP00000512482.1:p.Tyr53Cys | |
| ENST00000253496.4:c.158A>G (F12) MANE Select | ENSP00000253496.3:p.Tyr53Cys | |
| ENST00000253496.3:c.158A>G (F12) | ENSP00000253496.3:p.Tyr53Cys | |
| ENST00000502598.5:c.-45+2493T>C (GRK6) | ENSP00000422873.1:n.-45+2493T>C | |
| ENST00000506296.5:c.-45+1462T>C (GRK6) | ENSP00000421055.1:n.-45+1462T>C | |
| NM_000505.3:c.158A>G , LRG_145t1:c.158A>G (F12) | NP_000496.2:p.Tyr53Cys | |
| XM_011534461.1:c.158A>G (F12) | XP_011532763.1:p.Tyr53Cys | |
| XM_017009773.2:c.1417-5745T>C (SLC34A1) | XP_016865262.1:n.1417-5745T>C | |
| NM_000505.4:c.158A>G (F12) MANE Select | NP_000496.2:p.Tyr53Cys |