Linked Data
dbSNP Id:
rs765880725
ExAC:
13:113772732 C / T
gnomAD v2:
13-113772732-C-T
gnomAD v4:
13-113118418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118418C>T , CM000675.2:g.113118418C>T | GRCh38 |
| NC_000013.10:g.113772732C>T , CM000675.1:g.113772732C>T | GRCh37 |
| NC_000013.9:g.112820733C>T | NCBI36 |
| NG_009258.1:g.620C>T , LRG_548:g.620C>T | |
| NG_009262.1:g.17628C>T , LRG_554:g.17628C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.745C>T MANE Select | ENSP00000329546.4:p.His249Tyr | |
| ENST00000346342.7:c.745C>T | ENSP00000329546.3:p.His249Tyr | |
| ENST00000375581.3:c.811C>T | ENSP00000364731.3:p.His271Tyr | |
| ENST00000541084.5:c.559C>T | ENSP00000442051.2:p.His187Tyr | |
| NM_000131.4:c.811C>T , LRG_554t1:c.811C>T | NP_000122.1:p.His271Tyr | |
| NM_001267554.1:c.559C>T | NP_001254483.1:p.His187Tyr | |
| NM_019616.3:c.745C>T , LRG_554t2:c.745C>T | NP_062562.1:p.His249Tyr | |
| NR_051961.1:n.832C>T | ||
| XM_006719963.2:c.604C>T | XP_006720026.1:p.His202Tyr | |
| XM_011537474.1:c.853C>T | XP_011535776.1:p.His285Tyr | |
| XM_011537475.1:c.667C>T | XP_011535777.1:p.His223Tyr | |
| XM_011537476.1:c.505C>T | XP_011535778.1:p.His169Tyr | |
| XM_011537477.1:c.814C>T | XP_011535779.1:p.His272Tyr | |
| XM_006719963.3:c.649C>T | XP_006720026.2:p.His217Tyr | |
| XM_011537474.2:c.898C>T | XP_011535776.2:p.His300Tyr | |
| XM_011537475.2:c.712C>T | XP_011535777.2:p.His238Tyr | |
| XM_011537476.2:c.505C>T | XP_011535778.1:p.His169Tyr | |
| NM_019616.4:c.745C>T MANE Select | NP_062562.1:p.His249Tyr | |
| NR_051961.2:n.829C>T | ||
| NM_001267554.2:c.559C>T | NP_001254483.1:p.His187Tyr |