Linked Data
dbSNP Id:
rs1288887239
gnomAD v2:
2-113514107-G-A
gnomAD v3:
2-112756530-G-A
gnomAD v4:
2-112756530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756530G>A , CM000664.2:g.112756530G>A | GRCh38 |
| NC_000002.11:g.113514107G>A , CM000664.1:g.113514107G>A | GRCh37 |
| NC_000002.10:g.113230578G>A | NCBI36 |
| NG_041820.1:g.13148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.841C>T MANE Select | ENSP00000305204.6:p.His281Tyr | |
| ENST00000302450.10:c.841C>T | ENSP00000305204.6:p.His281Tyr | |
| ENST00000435431.5:c.478+363C>T | ENSP00000414834.1:n.478+363C>T | |
| NM_001304361.1:c.346C>T | NP_001291290.1:p.His116Tyr | |
| NM_152515.4:c.841C>T | NP_689728.3:p.His281Tyr | |
| NR_130712.1:n.557+363C>T | ||
| XM_011510666.1:c.346C>T | XP_011508968.1:p.His116Tyr | |
| XM_011510666.2:c.346C>T | XP_011508968.1:p.His116Tyr | |
| NM_152515.5:c.841C>T MANE Select | NP_689728.3:p.His281Tyr | |
| NM_001304361.2:c.346C>T | NP_001291290.1:p.His116Tyr | |
| NR_130712.2:n.489+363C>T |