Linked Data
ClinVar Variation Id:
316202
ClinVar RCV Id:
RCV000285420
dbSNP Id:
rs1145087
gnomAD v2:
15-45653460-C-T
gnomAD v3:
15-45361262-C-T
gnomAD v4:
15-45361262-C-T
ERepo:
CA10646088/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45361262C>T , CM000677.2:g.45361262C>T | GRCh38 |
| NC_000015.9:g.45653460C>T , CM000677.1:g.45653460C>T | GRCh37 |
| NC_000015.8:g.43440752C>T | NCBI36 |
| NG_011674.1:g.22521G>A | |
| NG_011674.2:g.46056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*847G>A MANE Select | ENSP00000379895.3:n.*847G>A | |
| ENST00000675323.1:c.*2621G>A | ENSP00000502445.1:n.*2621G>A | |
| ENST00000676090.1:c.*2850G>A | ENSP00000501630.1:n.*2850G>A | |
| ENST00000396659.7:c.*847G>A | ENSP00000379895.3:n.*847G>A | |
| ENST00000558362.5:n.3775G>A | ||
| NM_001482.2:c.*847G>A | NP_001473.1:n.*847G>A | |
| XM_011521450.1:c.*847G>A | XP_011519752.1:n.*847G>A | |
| XM_011521451.1:c.*847G>A | XP_011519753.1:n.*847G>A | |
| NM_001321015.1:c.*847G>A | NP_001307944.1:n.*847G>A | |
| NM_001482.3:c.*847G>A MANE Select | NP_001473.1:n.*847G>A | |
| NM_001321015.2:c.*847G>A | NP_001307944.1:n.*847G>A |