Linked Data
ClinVar Variation Id:
840248
dbSNP Id:
rs149359120
gnomAD v2:
13-49050882-G-T
gnomAD v4:
13-48476746-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476746G>T , CM000675.2:g.48476746G>T | GRCh38 |
| NC_000013.10:g.49050882G>T , CM000675.1:g.49050882G>T | GRCh37 |
| NC_000013.9:g.47948883G>T | NCBI36 |
| NG_009009.1:g.178000G>T , LRG_517:g.178000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2566G>T MANE Select | ENSP00000267163.4:p.Asp856Tyr | |
| ENST00000643064.1:c.194+95303G>T | ||
| ENST00000650461.1:c.2566G>T | ENSP00000497193.1:p.Asp856Tyr | |
| ENST00000267163.4:c.2566G>T | ENSP00000267163.4:p.Asp856Tyr | |
| ENST00000484879.1:n.300G>T | ||
| ENST00000531171.5:n.169G>T | ||
| NM_000321.2:c.2566G>T , LRG_517t1:c.2566G>T | NP_000312.2:p.Asp856Tyr | |
| XM_011535171.1:c.2305G>T | XP_011533473.1:p.Asp769Tyr | |
| XM_011535171.2:c.2305G>T | XP_011533473.1:p.Asp769Tyr | |
| NM_000321.3:c.2566G>T MANE Select | NP_000312.2:p.Asp856Tyr |