Linked Data
ClinVar Variation Id:
1446094
dbSNP Id:
rs775161380
ExAC:
13:48878169 G / T
gnomAD v2:
13-48878169-G-T
gnomAD v4:
13-48304033-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304033G>T , CM000675.2:g.48304033G>T | GRCh38 |
| NC_000013.10:g.48878169G>T , CM000675.1:g.48878169G>T | GRCh37 |
| NC_000013.9:g.47776170G>T | NCBI36 |
| NG_009009.1:g.5287G>T , LRG_517:g.5287G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.121G>T MANE Select | ENSP00000267163.4:p.Asp41Tyr | |
| ENST00000646097.1:c.121G>T | ENSP00000496556.1:p.Asp41Tyr | |
| ENST00000650461.1:c.121G>T | ENSP00000497193.1:p.Asp41Tyr | |
| ENST00000267163.4:c.121G>T | ENSP00000267163.4:p.Asp41Tyr | |
| ENST00000467505.5:c.121G>T | ENSP00000434702.1:p.Asp41Tyr | |
| ENST00000525036.1:n.283G>T | ||
| NM_000321.2:c.121G>T , LRG_517t1:c.121G>T | NP_000312.2:p.Asp41Tyr | |
| NM_000321.3:c.121G>T MANE Select | NP_000312.2:p.Asp41Tyr |