Linked Data
ClinVar Variation Id:
311371
ClinVar RCV Id:
RCV001672485
dbSNP Id:
rs7337074
gnomAD v2:
13-20762936-T-A
gnomAD v3:
13-20188797-T-A
gnomAD v4:
13-20188797-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188797T>A , CM000675.2:g.20188797T>A | GRCh38 |
| NC_000013.10:g.20762936T>A , CM000675.1:g.20762936T>A | GRCh37 |
| NC_000013.9:g.19660936T>A | NCBI36 |
| NG_008358.1:g.9179A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.*104A>T | ENSP00000372295.1:n.*104A>T | |
| ENST00000382848.5:c.*104A>T MANE Select | ENSP00000372299.4:n.*104A>T | |
| ENST00000382844.1:c.*104A>T | ENSP00000372295.1:n.*104A>T | |
| ENST00000382848.4:c.*104A>T | ENSP00000372299.4:n.*104A>T | |
| NM_004004.5:c.*104A>T | NP_003995.2:n.*104A>T | |
| XM_011535049.1:c.*104A>T | XP_011533351.1:n.*104A>T | |
| XM_011535049.2:c.*104A>T | XP_011533351.1:n.*104A>T | |
| NM_004004.6:c.*104A>T MANE Select | NP_003995.2:n.*104A>T |