Linked Data
ClinVar Variation Id:
1498021
ClinVar RCV Id:
RCV003762116
dbSNP Id:
rs561397821
gnomAD v2:
9-271639-G-A
gnomAD v4:
9-271639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.271639G>A , CM000671.2:g.271639G>A | GRCh38 |
| NC_000009.11:g.271639G>A , CM000671.1:g.271639G>A | GRCh37 |
| NC_000009.10:g.261639G>A | NCBI36 |
| NG_017007.1:g.61775G>A , LRG_196:g.61775G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.-139G>A | ENSP00000371766.2:n.-139G>A | |
| ENST00000682121.1:n.166-14822G>A | ||
| ENST00000684166.1:n.175G>A | ||
| ENST00000684384.1:n.175G>A | ||
| ENST00000432829.7:c.66G>A MANE Select | ENSP00000394888.3:p.Ala22= | |
| ENST00000432829.6:c.66G>A | ENSP00000394888.3:p.Ala22= | |
| ENST00000454469.6:n.175G>A | ||
| ENST00000469197.5:c.66G>A | ENSP00000418587.1:p.Ala22= | |
| ENST00000479404.5:c.-139G>A | ENSP00000417082.1:n.-139G>A | |
| ENST00000524396.5:c.*29G>A | ENSP00000436628.1:n.*29G>A | |
| NM_203447.3:c.66G>A , LRG_196t1:c.66G>A | NP_982272.2:p.Ala22= | |
| XM_011518045.1:c.-139G>A | XP_011516347.1:n.-139G>A | |
| XM_011518047.1:c.-139G>A | XP_011516349.1:n.-139G>A | |
| XR_929404.1:n.88+1266C>T | ||
| XR_929406.1:n.1333+2645C>T | ||
| XM_011518045.3:c.-139G>A | XP_011516347.1:n.-139G>A | |
| XM_011518047.3:c.-139G>A | XP_011516349.1:n.-139G>A | |
| XM_017015173.1:c.-139G>A | XP_016870662.1:n.-139G>A | |
| NM_203447.4:c.66G>A MANE Select | NP_982272.2:p.Ala22= |