Linked Data
ClinVar Variation Id:
8582
ClinVar RCV Id:
RCV003555982
dbSNP Id:
rs121912561
ExAC:
6:76596598 C / T
gnomAD v2:
6-76596598-C-T
gnomAD v3:
6-75886881-C-T
gnomAD v4:
6-75886881-C-T
PubMed:
PMID:18348273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75886881C>T , CM000668.2:g.75886881C>T | GRCh38 |
| NC_000006.11:g.76596598C>T , CM000668.1:g.76596598C>T | GRCh37 |
| NC_000006.10:g.76653318C>T | NCBI36 |
| NG_009934.1:g.142690C>T | |
| NG_009934.2:g.142689C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369975.6:c.2545C>T | ENSP00000358992.1:p.Arg849Ter | |
| ENST00000369977.8:c.2545C>T MANE Select | ENSP00000358994.3:p.Arg849Ter | |
| ENST00000369985.9:c.2545C>T | ENSP00000359002.3:p.Arg849Ter | |
| ENST00000462633.3:c.*2101C>T | ENSP00000499616.2:n.*2101C>T | |
| ENST00000627432.3:c.2554C>T | ENSP00000487348.2:p.Arg852Ter | |
| ENST00000653423.1:c.2545C>T | ENSP00000499696.1:p.Arg849Ter | |
| ENST00000653917.1:c.*652C>T | ENSP00000499623.1:n.*652C>T | |
| ENST00000660420.1:c.*2501C>T | ENSP00000499263.1:n.*2501C>T | |
| ENST00000662184.1:c.*652C>T | ENSP00000499732.1:n.*652C>T | |
| ENST00000662603.1:c.2545C>T | ENSP00000499324.1:p.Arg849Ter | |
| ENST00000663400.1:c.*570C>T | ENSP00000499736.1:n.*570C>T | |
| ENST00000664209.1:c.2545C>T | ENSP00000499768.1:p.Arg849Ter | |
| ENST00000664640.1:c.2545C>T | ENSP00000499278.1:p.Arg849Ter | |
| ENST00000671923.1:c.*652C>T | ENSP00000500835.1:n.*652C>T | |
| ENST00000672093.1:c.2545C>T | ENSP00000500710.1:p.Arg849Ter | |
| ENST00000369975.5:c.2545C>T | ENSP00000358992.1:p.Arg849Ter | |
| ENST00000369977.7:c.2545C>T | ENSP00000358994.3:p.Arg849Ter | |
| ENST00000369981.7:c.2545C>T | ENSP00000358998.4:p.Arg849Ter | |
| ENST00000369985.8:c.2545C>T | ENSP00000359002.3:p.Arg849Ter | |
| ENST00000615563.4:c.2545C>T | ENSP00000478013.1:p.Arg849Ter | |
| ENST00000627432.2:c.2545C>T | ENSP00000487348.1:p.Arg849Ter | |
| NM_001300899.1:c.2545C>T | NP_001287828.1:p.Arg849Ter | |
| NM_004999.3:c.2545C>T | NP_004990.3:p.Arg849Ter | |
| XM_005248719.2:c.2545C>T | XP_005248776.1:p.Arg849Ter | |
| XM_005248720.2:c.2545C>T | XP_005248777.1:p.Arg849Ter | |
| XM_005248721.2:c.2545C>T | XP_005248778.1:p.Arg849Ter | |
| XM_005248722.2:c.2545C>T | XP_005248779.1:p.Arg849Ter | |
| XM_005248724.2:c.2545C>T | XP_005248781.1:p.Arg849Ter | |
| XM_005248726.2:c.2545C>T | XP_005248783.1:p.Arg849Ter | |
| XM_005248719.4:c.2545C>T | XP_005248776.1:p.Arg849Ter | |
| XM_005248720.4:c.2545C>T | XP_005248777.1:p.Arg849Ter | |
| XM_005248721.4:c.2545C>T | XP_005248778.1:p.Arg849Ter | |
| XM_005248722.4:c.2545C>T | XP_005248779.1:p.Arg849Ter | |
| XM_005248724.4:c.2545C>T | XP_005248781.1:p.Arg849Ter | |
| XM_005248726.4:c.2545C>T | XP_005248783.1:p.Arg849Ter | |
| XM_017010899.2:c.2545C>T | XP_016866388.1:p.Arg849Ter | |
| XM_024446447.1:c.2545C>T | XP_024302215.1:p.Arg849Ter | |
| XM_024446448.1:c.2545C>T | XP_024302216.1:p.Arg849Ter | |
| NM_004999.4:c.2545C>T MANE Select | NP_004990.3:p.Arg849Ter | |
| NM_001300899.2:c.2545C>T | NP_001287828.1:p.Arg849Ter | |
| NM_001368136.1:c.2545C>T | NP_001355065.1:p.Arg849Ter | |
| NM_001368137.1:c.2545C>T | NP_001355066.1:p.Arg849Ter | |
| NM_001368138.1:c.2530C>T | NP_001355067.1:p.Arg844Ter | |
| NM_001368865.1:c.2545C>T | NP_001355794.1:p.Arg849Ter | |
| NM_001368866.1:c.2545C>T | NP_001355795.1:p.Arg849Ter | |
| NR_160538.1:n.2870C>T |