Linked Data
ClinVar Variation Id:
1679
ClinVar RCV Id:
RCV000001747
dbSNP Id:
rs121434334
gnomAD v4:
4-102657873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102657873A>G , CM000666.2:g.102657873A>G | GRCh38 |
| NC_000004.11:g.103579030A>G , CM000666.1:g.103579030A>G | GRCh37 |
| NC_000004.10:g.103798078A>G | NCBI36 |
| NG_012804.1:g.108122T>C | |
| NG_012804.2:g.108122T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642252.1:c.1651T>C | ENSP00000495483.1:p.Ser551Pro | |
| ENST00000644159.1:c.1513T>C | ENSP00000494462.1:p.Ser505Pro | |
| ENST00000644545.1:c.*153T>C | ENSP00000493992.1:n.*153T>C | |
| ENST00000645348.1:c.*535T>C | ENSP00000495363.1:n.*535T>C | |
| ENST00000645558.1:c.1181T>C | ||
| ENST00000646311.1:c.*633T>C | ENSP00000493465.1:n.*633T>C | |
| ENST00000646727.1:c.*367T>C | ENSP00000493519.1:n.*367T>C | |
| ENST00000647097.2:c.1513T>C MANE Select | ENSP00000495247.1:p.Ser505Pro | |
| ENST00000647129.1:c.1602T>C | ENSP00000496137.1:n.1602T>C | |
| ENST00000226578.8:c.1513T>C | ENSP00000226578.4:p.Ser505Pro | |
| ENST00000505239.1:c.1342T>C | ENSP00000427322.1:p.Ser448Pro | |
| ENST00000514430.5:n.5748T>C | ||
| NM_005908.3:c.1513T>C | NP_005899.3:p.Ser505Pro | |
| XM_011531965.1:c.607T>C | XP_011530267.1:p.Ser203Pro | |
| XM_011531966.1:c.268T>C | XP_011530268.1:p.Ser90Pro | |
| XM_017008203.1:c.1150T>C | XP_016863692.1:p.Ser384Pro | |
| XM_017008204.2:c.865T>C | XP_016863693.1:p.Ser289Pro | |
| XM_017008205.2:c.307T>C | XP_016863694.1:p.Ser103Pro | |
| XM_024454048.1:c.1438T>C | XP_024309816.1:p.Ser480Pro | |
| XM_024454049.1:c.1150T>C | XP_024309817.1:p.Ser384Pro | |
| NM_005908.4:c.1513T>C MANE Select | NP_005899.3:p.Ser505Pro |