Linked Data
ClinVar Variation Id:
1430813
ClinVar RCV Id:
RCV001948443
dbSNP Id:
rs772222746
ExAC:
13:48955547 C / T
gnomAD v2:
13-48955547-C-T
gnomAD v4:
13-48381411-C-T
COSMIC:
COSM6438191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381411C>T , CM000675.2:g.48381411C>T | GRCh38 |
| NC_000013.10:g.48955547C>T , CM000675.1:g.48955547C>T | GRCh37 |
| NC_000013.9:g.47853548C>T | NCBI36 |
| NG_009009.1:g.82665C>T , LRG_517:g.82665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1663C>T MANE Select | ENSP00000267163.4:p.His555Tyr | |
| ENST00000643064.1:c.162C>T | ||
| ENST00000650461.1:c.1663C>T | ENSP00000497193.1:p.His555Tyr | |
| ENST00000267163.4:c.1663C>T | ENSP00000267163.4:p.His555Tyr | |
| NM_000321.2:c.1663C>T , LRG_517t1:c.1663C>T | NP_000312.2:p.His555Tyr | |
| XM_011535171.1:c.1402C>T | XP_011533473.1:p.His468Tyr | |
| XM_011535171.2:c.1402C>T | XP_011533473.1:p.His468Tyr | |
| NM_000321.3:c.1663C>T MANE Select | NP_000312.2:p.His555Tyr |