Linked Data
ClinVar Variation Id:
357968
ClinVar RCV Id:
RCV001712344
dbSNP Id:
rs145079869
ExAC:
6:7586150 T / C
gnomAD v2:
6-7586150-T-C
gnomAD v3:
6-7585917-T-C
gnomAD v4:
6-7585917-T-C
COSMIC:
COSN5273288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585917T>C , CM000668.2:g.7585917T>C | GRCh38 |
| NC_000006.11:g.7586150T>C , CM000668.1:g.7586150T>C | GRCh37 |
| NC_000006.10:g.7531149T>C | NCBI36 |
| NG_008803.1:g.49281T>C , LRG_423:g.49281T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.*39T>C | ENSP00000518230.1:n.*39T>C | |
| ENST00000379802.8:c.*39T>C MANE Select | ENSP00000369129.3:n.*39T>C | |
| ENST00000379802.7:c.*39T>C | ENSP00000369129.3:n.*39T>C | |
| ENST00000418664.2:c.*39T>C | ENSP00000396591.2:n.*39T>C | |
| NM_001008844.1:c.*39T>C | NP_001008844.1:n.*39T>C | |
| NM_004415.2:c.*39T>C , LRG_423t1:c.*39T>C | NP_004406.2:n.*39T>C | |
| XM_011514323.1:c.*39T>C | XP_011512625.1:n.*39T>C | |
| NM_001008844.2:c.*39T>C | NP_001008844.1:n.*39T>C | |
| NM_001319034.1:c.*39T>C | NP_001305963.1:n.*39T>C | |
| NM_004415.3:c.*39T>C | NP_004406.2:n.*39T>C | |
| NM_004415.4:c.*39T>C MANE Select | NP_004406.2:n.*39T>C | |
| NM_001008844.3:c.*39T>C | NP_001008844.1:n.*39T>C | |
| NM_001319034.2:c.*39T>C | NP_001305963.1:n.*39T>C |