Linked Data
ClinVar Variation Id:
349519
ClinVar RCV Id:
RCV000375687
dbSNP Id:
rs886059591
gnomAD v2:
4-71511177-T-C
gnomAD v3:
4-70645460-T-C
gnomAD v4:
4-70645460-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70645460T>C , CM000666.2:g.70645460T>C | GRCh38 |
| NC_000004.11:g.71511177T>C , CM000666.1:g.71511177T>C | GRCh37 |
| NC_000004.10:g.71730041T>C | NCBI36 |
| NG_013024.1:g.21717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396073.4:c.*605T>C MANE Select | ENSP00000379383.4:n.*605T>C | |
| ENST00000396073.3:c.*605T>C | ENSP00000379383.3:n.*605T>C | |
| ENST00000472903.5:n.99+7617T>C | ||
| NM_031889.2:c.*605T>C | NP_114095.2:n.*605T>C | |
| XM_006714056.2:c.*605T>C | XP_006714119.1:n.*605T>C | |
| XM_006714056.4:c.*605T>C | XP_006714119.1:n.*605T>C | |
| NM_001368133.1:c.*605T>C | NP_001355062.1:n.*605T>C | |
| NM_031889.3:c.*605T>C MANE Select | NP_114095.2:n.*605T>C |