Linked Data
ClinVar Variation Id:
2042583
ClinVar RCV Id:
RCV002917589
dbSNP Id:
rs1208037012
gnomAD v2:
9-139412575-G-A
gnomAD v3:
9-136518123-G-A
gnomAD v4:
9-136518123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136518123G>A , CM000671.2:g.136518123G>A | GRCh38 |
| NC_000009.11:g.139412575G>A , CM000671.1:g.139412575G>A | GRCh37 |
| NC_000009.10:g.138532396G>A | NCBI36 |
| NG_007458.1:g.32664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1255+14C>T MANE Select | ENSP00000498587.1:n.1255+14C>T | |
| ENST00000679595.1:c.1255+14C>T | ENSP00000506241.1:n.1255+14C>T | |
| ENST00000680133.1:c.1255+14C>T | ENSP00000505319.1:n.1255+14C>T | |
| ENST00000680218.1:c.1255+14C>T | ENSP00000505339.1:n.1255+14C>T | |
| ENST00000680668.1:c.1255+14C>T | ENSP00000506336.1:n.1255+14C>T | |
| ENST00000680924.1:c.1255+14C>T | ENSP00000506031.1:n.1255+14C>T | |
| ENST00000681135.1:c.1255+14C>T | ENSP00000506636.1:n.1255+14C>T | |
| ENST00000681454.1:c.*491+14C>T | ENSP00000505763.1:n.*491+14C>T | |
| ENST00000277541.6:c.1255+14C>T | ENSP00000277541.6:n.1255+14C>T | |
| NM_017617.3:c.1255+14C>T | NP_060087.3:n.1255+14C>T | |
| XM_011518717.1:c.556+14C>T | XP_011517019.1:n.556+14C>T | |
| NM_017617.5:c.1255+14C>T MANE Select | NP_060087.3:n.1255+14C>T | |
| XM_011518717.2:c.532+14C>T | XP_011517019.2:n.532+14C>T |