Linked Data
ClinVar Variation Id:
2618809
ClinVar RCV Id:
RCV004359589
dbSNP Id:
rs1763757287
gnomAD v4:
5-176295153-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176295153T>C , CM000667.2:g.176295153T>C | GRCh38 |
| NC_000005.9:g.175722156T>C , CM000667.1:g.175722156T>C | GRCh37 |
| NC_000005.8:g.175654762T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429602.7:c.1555T>C MANE Select | ENSP00000410552.3:p.Tyr519His | |
| ENST00000341199.10:c.253T>C | ENSP00000342075.6:p.Tyr85His | |
| ENST00000429602.6:c.1555T>C | ENSP00000410552.3:p.Tyr519His | |
| ENST00000430704.6:c.253T>C | ENSP00000409287.2:p.Tyr85His | |
| ENST00000443967.5:c.1498T>C | ENSP00000406571.1:p.Tyr500His | |
| ENST00000467472.1:n.183T>C | ||
| ENST00000495423.1:n.380T>C | ||
| NM_001308195.1:c.1555T>C | NP_001295124.1:p.Tyr519His | |
| NM_001308196.1:c.1498T>C | NP_001295125.1:p.Tyr500His | |
| NM_198567.4:c.253T>C | NP_940969.3:p.Tyr85His | |
| NM_198567.5:c.253T>C | NP_940969.3:p.Tyr85His | |
| NR_131772.1:n.403T>C | ||
| XM_011534553.1:c.1567T>C | XP_011532855.1:p.Tyr523His | |
| XM_011534554.1:c.1567T>C | XP_011532856.1:p.Tyr523His | |
| XM_011534556.1:c.1486T>C | XP_011532858.1:p.Tyr496His | |
| XM_011534553.2:c.1567T>C | XP_011532855.1:p.Tyr523His | |
| XM_011534554.2:c.1567T>C | XP_011532856.1:p.Tyr523His | |
| XM_011534556.2:c.1486T>C | XP_011532858.1:p.Tyr496His | |
| XM_017009454.1:c.1498T>C | XP_016864943.1:p.Tyr500His | |
| XM_017009455.1:c.1231T>C | XP_016864944.1:p.Tyr411His | |
| XM_017009456.1:c.1231T>C | XP_016864945.1:p.Tyr411His | |
| NM_001308195.2:c.1555T>C MANE Select | NP_001295124.1:p.Tyr519His | |
| NR_131772.2:n.338T>C | ||
| NM_001308196.2:c.1498T>C | NP_001295125.1:p.Tyr500His | |
| NM_198567.6:c.253T>C | NP_940969.3:p.Tyr85His |