Linked Data
ClinVar Variation Id:
301900
ClinVar RCV Id:
RCV000324923
dbSNP Id:
rs377172208
ExAC:
11:101325809 A / G
gnomAD v2:
11-101325809-A-G
gnomAD v3:
11-101455078-A-G
gnomAD v4:
11-101455078-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101455078A>G , CM000673.2:g.101455078A>G | GRCh38 |
| NC_000011.9:g.101325809A>G , CM000673.1:g.101325809A>G | GRCh37 |
| NC_000011.8:g.100831019A>G | NCBI36 |
| NG_011476.1:g.133851T>C | |
| NG_011476.2:g.133851T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2508T>C MANE Select | ENSP00000340913.3:p.Ser836= | |
| ENST00000344327.7:c.2508T>C | ENSP00000340913.3:p.Ser836= | |
| ENST00000348423.8:c.2160T>C | ENSP00000343672.4:p.Ser720= | |
| ENST00000360497.4:c.2343T>C | ENSP00000353687.4:p.Ser781= | |
| ENST00000532133.5:c.2274T>C | ENSP00000435574.1:p.Ser758= | |
| ENST00000532184.1:n.500T>C | ||
| NM_004621.5:c.2508T>C | NP_004612.2:p.Ser836= | |
| XM_006718898.2:c.2433T>C | XP_006718961.1:p.Ser811= | |
| XM_011542968.1:c.2343T>C | XP_011541270.1:p.Ser781= | |
| XM_011542969.1:c.*10T>C | XP_011541271.1:n.*10T>C | |
| XM_011542968.3:c.2343T>C | XP_011541270.1:p.Ser781= | |
| XM_017018221.2:c.2160T>C | XP_016873710.1:p.Ser720= | |
| XR_001747948.2:n.2865T>C | ||
| NM_004621.6:c.2508T>C MANE Select | NP_004612.2:p.Ser836= |