Linked Data
ClinVar Variation Id:
336110
ClinVar RCV Id:
RCV000279438
dbSNP Id:
rs886056043
gnomAD v2:
2-44113923-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43886784A>G , CM000664.2:g.43886784A>G | GRCh38 |
| NC_000002.11:g.44113923A>G , CM000664.1:g.44113923A>G | GRCh37 |
| NC_000002.10:g.43967427A>G | NCBI36 |
| NG_008247.1:g.114222T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682612.1:c.2768T>C | ||
| ENST00000684454.1:n.9865T>C | ||
| ENST00000260665.12:c.*1816T>C MANE Select | ENSP00000260665.7:n.*1816T>C | |
| ENST00000260665.11:c.*1816T>C | ENSP00000260665.7:n.*1816T>C | |
| NM_133259.3:c.*1816T>C | NP_573566.2:n.*1816T>C | |
| XR_002958896.1:n.6183T>C | ||
| NM_133259.4:c.*1816T>C MANE Select | NP_573566.2:n.*1816T>C |