Linked Data
ClinVar Variation Id:
1418046
ClinVar RCV Id:
RCV001951937
dbSNP Id:
rs2153226569
gnomAD v4:
3-52403419-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403419T>G , CM000665.2:g.52403419T>G | GRCh38 |
| NC_000003.11:g.52437435T>G , CM000665.1:g.52437435T>G | GRCh37 |
| NC_000003.10:g.52412475T>G | NCBI36 |
| NG_031859.1:g.11575A>C , LRG_529:g.11575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1726A>C MANE Select | ENSP00000417132.1:p.Thr576Pro | |
| ENST00000296288.9:c.1672A>C | ENSP00000296288.5:p.Thr558Pro | |
| ENST00000460680.5:c.1726A>C | ENSP00000417132.1:p.Thr576Pro | |
| ENST00000466093.1:n.133A>C | ||
| ENST00000469613.5:c.119+382A>C | ||
| ENST00000478368.1:c.229A>C | ENSP00000420647.1:p.Thr77Pro | |
| NM_004656.3:c.1726A>C | NP_004647.1:p.Thr576Pro | |
| XM_011534149.1:c.1726A>C | XP_011532451.1:p.Thr576Pro | |
| XM_011534150.1:c.1726A>C | XP_011532452.1:p.Thr576Pro | |
| XM_011534151.1:c.1672A>C | XP_011532453.1:p.Thr558Pro | |
| XM_011534152.1:c.1726A>C | XP_011532454.1:p.Thr576Pro | |
| XM_011534149.3:c.1726A>C | XP_011532451.1:p.Thr576Pro | |
| XM_011534150.3:c.1726A>C | XP_011532452.1:p.Thr576Pro | |
| XM_011534151.3:c.1672A>C | XP_011532453.1:p.Thr558Pro | |
| XM_011534152.2:c.1726A>C | XP_011532454.1:p.Thr576Pro | |
| XM_017007303.2:c.1672A>C | XP_016862792.1:p.Thr558Pro | |
| NM_004656.4:c.1726A>C MANE Select | NP_004647.1:p.Thr576Pro |