Linked Data
ClinVar Variation Id:
1261037
ClinVar RCV Id:
RCV001671438
dbSNP Id:
rs12308719
gnomAD v2:
12-52942235-G-T
gnomAD v3:
12-52548451-G-T
gnomAD v4:
12-52548451-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52548451G>T , CM000674.2:g.52548451G>T | GRCh38 |
| NC_000012.11:g.52942235G>T , CM000674.1:g.52942235G>T | GRCh37 |
| NC_000012.10:g.51228502G>T | NCBI36 |
| NG_012426.1:g.9697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267119.6:c.814-135C>A MANE Select | ENSP00000267119.5:n.814-135C>A | |
| ENST00000267119.5:c.814-135C>A | ENSP00000267119.5:n.814-135C>A | |
| NM_033448.2:c.814-135C>A | NP_258259.1:n.814-135C>A | |
| XM_017018749.1:c.568-135C>A | XP_016874238.1:n.568-135C>A | |
| NM_033448.3:c.814-135C>A MANE Select | NP_258259.1:n.814-135C>A |