Linked Data
dbSNP Id:
rs777659547
ExAC:
13:113772749 C / T
gnomAD v2:
13-113772749-C-T
gnomAD v3:
13-113118435-C-T
gnomAD v4:
13-113118435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118435C>T , CM000675.2:g.113118435C>T | GRCh38 |
| NC_000013.10:g.113772749C>T , CM000675.1:g.113772749C>T | GRCh37 |
| NC_000013.9:g.112820750C>T | NCBI36 |
| NG_009258.1:g.637C>T , LRG_548:g.637C>T | |
| NG_009262.1:g.17645C>T , LRG_554:g.17645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.762C>T MANE Select | ENSP00000329546.4:p.His254= | |
| ENST00000346342.7:c.762C>T | ENSP00000329546.3:p.His254= | |
| ENST00000375581.3:c.828C>T | ENSP00000364731.3:p.His276= | |
| ENST00000541084.5:c.576C>T | ENSP00000442051.2:p.His192= | |
| NM_000131.4:c.828C>T , LRG_554t1:c.828C>T | NP_000122.1:p.His276= | |
| NM_001267554.1:c.576C>T | NP_001254483.1:p.His192= | |
| NM_019616.3:c.762C>T , LRG_554t2:c.762C>T | NP_062562.1:p.His254= | |
| NR_051961.1:n.849C>T | ||
| XM_006719963.2:c.621C>T | XP_006720026.1:p.His207= | |
| XM_011537474.1:c.870C>T | XP_011535776.1:p.His290= | |
| XM_011537475.1:c.684C>T | XP_011535777.1:p.His228= | |
| XM_011537476.1:c.522C>T | XP_011535778.1:p.His174= | |
| XM_011537477.1:c.831C>T | XP_011535779.1:p.His277= | |
| XM_006719963.3:c.666C>T | XP_006720026.2:p.His222= | |
| XM_011537474.2:c.915C>T | XP_011535776.2:p.His305= | |
| XM_011537475.2:c.729C>T | XP_011535777.2:p.His243= | |
| XM_011537476.2:c.522C>T | XP_011535778.1:p.His174= | |
| NM_019616.4:c.762C>T MANE Select | NP_062562.1:p.His254= | |
| NR_051961.2:n.846C>T | ||
| NM_001267554.2:c.576C>T | NP_001254483.1:p.His192= |