Linked Data
ClinVar Variation Id:
358058
ClinVar RCV Id:
RCV001778942
dbSNP Id:
rs7746476
gnomAD v2:
6-76629012-A-T
gnomAD v3:
6-75919295-A-T
gnomAD v4:
6-75919295-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75919295A>T , CM000668.2:g.75919295A>T | GRCh38 |
| NC_000006.11:g.76629012A>T , CM000668.1:g.76629012A>T | GRCh37 |
| NC_000006.10:g.76685732A>T | NCBI36 |
| NG_009934.1:g.175104A>T | |
| NG_041812.1:g.158384T>A | |
| NG_009934.2:g.175103A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369977.8:c.*4283A>T MANE Select | ENSP00000358994.3:n.*4283A>T | |
| ENST00000369985.9:c.*4283A>T | ENSP00000359002.3:n.*4283A>T | |
| ENST00000664640.1:c.*4283A>T | ENSP00000499278.1:n.*4283A>T | |
| ENST00000369981.7:c.*4283A>T | ENSP00000358998.4:n.*4283A>T | |
| ENST00000369985.8:c.*4283A>T | ENSP00000359002.3:n.*4283A>T | |
| NM_001300899.1:c.*4283A>T | NP_001287828.1:n.*4283A>T | |
| NM_004999.3:c.*4283A>T | NP_004990.3:n.*4283A>T | |
| XM_005248719.4:c.*4283A>T | XP_005248776.1:n.*4283A>T | |
| XM_005248720.4:c.*4283A>T | XP_005248777.1:n.*4283A>T | |
| XM_005248721.4:c.*4283A>T | XP_005248778.1:n.*4283A>T | |
| XM_005248722.4:c.*4283A>T | XP_005248779.1:n.*4283A>T | |
| XM_005248724.4:c.*4283A>T | XP_005248781.1:n.*4283A>T | |
| XM_005248726.4:c.*4283A>T | XP_005248783.1:n.*4283A>T | |
| XM_017010899.2:c.*4283A>T | XP_016866388.1:n.*4283A>T | |
| XM_024446447.1:c.*4283A>T | XP_024302215.1:n.*4283A>T | |
| XM_024446448.1:c.*4283A>T | XP_024302216.1:n.*4283A>T | |
| NM_004999.4:c.*4283A>T MANE Select | NP_004990.3:n.*4283A>T | |
| NM_001300899.2:c.*4283A>T | NP_001287828.1:n.*4283A>T | |
| NM_001368136.1:c.*4283A>T | NP_001355065.1:n.*4283A>T | |
| NM_001368137.1:c.*4283A>T | NP_001355066.1:n.*4283A>T | |
| NM_001368138.1:c.*4283A>T | NP_001355067.1:n.*4283A>T | |
| NM_001368865.1:c.*4283A>T | NP_001355794.1:n.*4283A>T | |
| NM_001368866.1:c.*4283A>T | NP_001355795.1:n.*4283A>T | |
| NR_160538.1:n.8370A>T |