Linked Data
ClinVar Variation Id:
2986681
ClinVar RCV Id:
RCV003846336
dbSNP Id:
rs950765065
gnomAD v2:
6-76623860-C-T
gnomAD v4:
6-75914143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914143C>T , CM000668.2:g.75914143C>T | GRCh38 |
| NC_000006.11:g.76623860C>T , CM000668.1:g.76623860C>T | GRCh37 |
| NC_000006.10:g.76680580C>T | NCBI36 |
| NG_009934.1:g.169952C>T | |
| NG_009934.2:g.169951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3424C>T | ENSP00000358992.1:p.Pro1142Ser | |
| ENST00000369977.8:c.3520C>T MANE Select | ENSP00000358994.3:p.Pro1174Ser | |
| ENST00000369985.9:c.3451C>T | ENSP00000359002.3:p.Pro1151Ser | |
| ENST00000664640.1:c.3547C>T | ENSP00000499278.1:p.Pro1183Ser | |
| ENST00000671923.1:c.*1531C>T | ENSP00000500835.1:n.*1531C>T | |
| ENST00000672093.1:c.3520C>T | ENSP00000500710.1:p.Pro1174Ser | |
| ENST00000672162.1:n.1686C>T | ||
| ENST00000369975.5:c.3424C>T | ENSP00000358992.1:p.Pro1142Ser | |
| ENST00000369977.7:c.3520C>T | ENSP00000358994.3:p.Pro1174Ser | |
| ENST00000369981.7:c.3550C>T | ENSP00000358998.4:p.Pro1184Ser | |
| ENST00000369985.8:c.3451C>T | ENSP00000359002.3:p.Pro1151Ser | |
| ENST00000615563.4:c.3451C>T | ENSP00000478013.1:p.Pro1151Ser | |
| ENST00000627432.2:c.3547C>T | ENSP00000487348.1:p.Pro1183Ser | |
| NM_001300899.1:c.3451C>T | NP_001287828.1:p.Pro1151Ser | |
| NM_004999.3:c.3520C>T | NP_004990.3:p.Pro1174Ser | |
| XM_005248719.2:c.3547C>T | XP_005248776.1:p.Pro1183Ser | |
| XM_005248720.2:c.3520C>T | XP_005248777.1:p.Pro1174Ser | |
| XM_005248721.2:c.3508C>T | XP_005248778.1:p.Pro1170Ser | |
| XM_005248722.2:c.3493C>T | XP_005248779.1:p.Pro1165Ser | |
| XM_005248724.2:c.3481C>T | XP_005248781.1:p.Pro1161Ser | |
| XM_005248726.2:c.3424C>T | XP_005248783.1:p.Pro1142Ser | |
| XM_005248719.4:c.3547C>T | XP_005248776.1:p.Pro1183Ser | |
| XM_005248720.4:c.3520C>T | XP_005248777.1:p.Pro1174Ser | |
| XM_005248721.4:c.3508C>T | XP_005248778.1:p.Pro1170Ser | |
| XM_005248722.4:c.3493C>T | XP_005248779.1:p.Pro1165Ser | |
| XM_005248724.4:c.3481C>T | XP_005248781.1:p.Pro1161Ser | |
| XM_005248726.4:c.3424C>T | XP_005248783.1:p.Pro1142Ser | |
| XM_017010899.2:c.3454C>T | XP_016866388.1:p.Pro1152Ser | |
| XM_024446447.1:c.3547C>T | XP_024302215.1:p.Pro1183Ser | |
| XM_024446448.1:c.3481C>T | XP_024302216.1:p.Pro1161Ser | |
| NM_004999.4:c.3520C>T MANE Select | NP_004990.3:p.Pro1174Ser | |
| NM_001300899.2:c.3451C>T | NP_001287828.1:p.Pro1151Ser | |
| NM_001368136.1:c.3424C>T | NP_001355065.1:p.Pro1142Ser | |
| NM_001368137.1:c.3481C>T | NP_001355066.1:p.Pro1161Ser | |
| NM_001368138.1:c.3436C>T | NP_001355067.1:p.Pro1146Ser | |
| NM_001368865.1:c.3547C>T | NP_001355794.1:p.Pro1183Ser | |
| NM_001368866.1:c.3520C>T | NP_001355795.1:p.Pro1174Ser | |
| NR_160538.1:n.3749C>T |