Linked Data
ClinVar Variation Id:
1926123
ClinVar RCV Id:
RCV003776691
dbSNP Id:
rs1363190971
gnomAD v2:
9-271632-C-T
gnomAD v3:
9-271632-C-T
gnomAD v4:
9-271632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.271632C>T , CM000671.2:g.271632C>T | GRCh38 |
| NC_000009.11:g.271632C>T , CM000671.1:g.271632C>T | GRCh37 |
| NC_000009.10:g.261632C>T | NCBI36 |
| NG_017007.1:g.61768C>T , LRG_196:g.61768C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.-146C>T | ENSP00000371766.2:n.-146C>T | |
| ENST00000682121.1:n.166-14829C>T | ||
| ENST00000684166.1:n.168C>T | ||
| ENST00000684384.1:n.168C>T | ||
| ENST00000432829.7:c.59C>T MANE Select | ENSP00000394888.3:p.Ser20Phe | |
| ENST00000432829.6:c.59C>T | ENSP00000394888.3:p.Ser20Phe | |
| ENST00000454469.6:n.168C>T | ||
| ENST00000469197.5:c.59C>T | ENSP00000418587.1:p.Ser20Phe | |
| ENST00000479404.5:c.-146C>T | ENSP00000417082.1:n.-146C>T | |
| ENST00000524396.5:c.*22C>T | ENSP00000436628.1:n.*22C>T | |
| NM_203447.3:c.59C>T , LRG_196t1:c.59C>T | NP_982272.2:p.Ser20Phe | |
| XM_011518045.1:c.-146C>T | XP_011516347.1:n.-146C>T | |
| XM_011518047.1:c.-146C>T | XP_011516349.1:n.-146C>T | |
| XR_929404.1:n.88+1273G>A | ||
| XR_929406.1:n.1333+2652G>A | ||
| XM_011518045.3:c.-146C>T | XP_011516347.1:n.-146C>T | |
| XM_011518047.3:c.-146C>T | XP_011516349.1:n.-146C>T | |
| XM_017015173.1:c.-146C>T | XP_016870662.1:n.-146C>T | |
| NM_203447.4:c.59C>T MANE Select | NP_982272.2:p.Ser20Phe |