Linked Data
ClinVar Variation Id:
2713559
ClinVar RCV Id:
RCV003550446
dbSNP Id:
rs149746193
ExAC:
6:76623871 C / T
gnomAD v2:
6-76623871-C-T
gnomAD v3:
6-75914154-C-T
gnomAD v4:
6-75914154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914154C>T , CM000668.2:g.75914154C>T | GRCh38 |
| NC_000006.11:g.76623871C>T , CM000668.1:g.76623871C>T | GRCh37 |
| NC_000006.10:g.76680591C>T | NCBI36 |
| NG_009934.1:g.169963C>T | |
| NG_009934.2:g.169962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3435C>T | ENSP00000358992.1:p.Arg1145= | |
| ENST00000369977.8:c.3531C>T MANE Select | ENSP00000358994.3:p.Arg1177= | |
| ENST00000369985.9:c.3462C>T | ENSP00000359002.3:p.Arg1154= | |
| ENST00000664640.1:c.3558C>T | ENSP00000499278.1:p.Arg1186= | |
| ENST00000671923.1:c.*1542C>T | ENSP00000500835.1:n.*1542C>T | |
| ENST00000672093.1:c.3531C>T | ENSP00000500710.1:p.Arg1177= | |
| ENST00000672162.1:n.1697C>T | ||
| ENST00000369975.5:c.3435C>T | ENSP00000358992.1:p.Arg1145= | |
| ENST00000369977.7:c.3531C>T | ENSP00000358994.3:p.Arg1177= | |
| ENST00000369981.7:c.3561C>T | ENSP00000358998.4:p.Arg1187= | |
| ENST00000369985.8:c.3462C>T | ENSP00000359002.3:p.Arg1154= | |
| ENST00000615563.4:c.3462C>T | ENSP00000478013.1:p.Arg1154= | |
| ENST00000627432.2:c.3558C>T | ENSP00000487348.1:p.Arg1186= | |
| NM_001300899.1:c.3462C>T | NP_001287828.1:p.Arg1154= | |
| NM_004999.3:c.3531C>T | NP_004990.3:p.Arg1177= | |
| XM_005248719.2:c.3558C>T | XP_005248776.1:p.Arg1186= | |
| XM_005248720.2:c.3531C>T | XP_005248777.1:p.Arg1177= | |
| XM_005248721.2:c.3519C>T | XP_005248778.1:p.Arg1173= | |
| XM_005248722.2:c.3504C>T | XP_005248779.1:p.Arg1168= | |
| XM_005248724.2:c.3492C>T | XP_005248781.1:p.Arg1164= | |
| XM_005248726.2:c.3435C>T | XP_005248783.1:p.Arg1145= | |
| XM_005248719.4:c.3558C>T | XP_005248776.1:p.Arg1186= | |
| XM_005248720.4:c.3531C>T | XP_005248777.1:p.Arg1177= | |
| XM_005248721.4:c.3519C>T | XP_005248778.1:p.Arg1173= | |
| XM_005248722.4:c.3504C>T | XP_005248779.1:p.Arg1168= | |
| XM_005248724.4:c.3492C>T | XP_005248781.1:p.Arg1164= | |
| XM_005248726.4:c.3435C>T | XP_005248783.1:p.Arg1145= | |
| XM_017010899.2:c.3465C>T | XP_016866388.1:p.Arg1155= | |
| XM_024446447.1:c.3558C>T | XP_024302215.1:p.Arg1186= | |
| XM_024446448.1:c.3492C>T | XP_024302216.1:p.Arg1164= | |
| NM_004999.4:c.3531C>T MANE Select | NP_004990.3:p.Arg1177= | |
| NM_001300899.2:c.3462C>T | NP_001287828.1:p.Arg1154= | |
| NM_001368136.1:c.3435C>T | NP_001355065.1:p.Arg1145= | |
| NM_001368137.1:c.3492C>T | NP_001355066.1:p.Arg1164= | |
| NM_001368138.1:c.3447C>T | NP_001355067.1:p.Arg1149= | |
| NM_001368865.1:c.3558C>T | NP_001355794.1:p.Arg1186= | |
| NM_001368866.1:c.3531C>T | NP_001355795.1:p.Arg1177= | |
| NR_160538.1:n.3760C>T |