Linked Data
ClinVar Variation Id:
337522
ClinVar RCV Id:
RCV000305010
dbSNP Id:
rs571136350
gnomAD v2:
2-96940689-A-G
gnomAD v3:
2-96274951-A-G
gnomAD v4:
2-96274951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96274951A>G , CM000664.2:g.96274951A>G | GRCh38 |
| NC_000002.11:g.96940689A>G , CM000664.1:g.96940689A>G | GRCh37 |
| NC_000002.10:g.96304416A>G | NCBI36 |
| NG_016973.1:g.35609T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.*61T>C MANE Select | ENSP00000317123.5:n.*61T>C | |
| ENST00000323853.9:c.*61T>C | ENSP00000317123.5:n.*61T>C | |
| ENST00000497539.5:n.2446T>C | ||
| NM_014014.4:c.*61T>C | NP_054733.2:n.*61T>C | |
| NM_014014.5:c.*61T>C MANE Select | NP_054733.2:n.*61T>C |