Linked Data
dbSNP Id:
rs748493381
ExAC:
13:113772824 C / T
gnomAD v2:
13-113772824-C-T
gnomAD v4:
13-113118510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118510C>T , CM000675.2:g.113118510C>T | GRCh38 |
| NC_000013.10:g.113772824C>T , CM000675.1:g.113772824C>T | GRCh37 |
| NC_000013.9:g.112820825C>T | NCBI36 |
| NG_009258.1:g.712C>T , LRG_548:g.712C>T | |
| NG_009262.1:g.17720C>T , LRG_554:g.17720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.837C>T MANE Select | ENSP00000329546.4:p.His279= | |
| ENST00000346342.7:c.837C>T | ENSP00000329546.3:p.His279= | |
| ENST00000375581.3:c.903C>T | ENSP00000364731.3:p.His301= | |
| ENST00000541084.5:c.651C>T | ENSP00000442051.2:p.His217= | |
| NM_000131.4:c.903C>T , LRG_554t1:c.903C>T | NP_000122.1:p.His301= | |
| NM_001267554.1:c.651C>T | NP_001254483.1:p.His217= | |
| NM_019616.3:c.837C>T , LRG_554t2:c.837C>T | NP_062562.1:p.His279= | |
| NR_051961.1:n.924C>T | ||
| XM_006719963.2:c.696C>T | XP_006720026.1:p.His232= | |
| XM_011537474.1:c.945C>T | XP_011535776.1:p.His315= | |
| XM_011537475.1:c.759C>T | XP_011535777.1:p.His253= | |
| XM_011537476.1:c.597C>T | XP_011535778.1:p.His199= | |
| XM_011537477.1:c.906C>T | XP_011535779.1:p.His302= | |
| XM_006719963.3:c.741C>T | XP_006720026.2:p.His247= | |
| XM_011537474.2:c.990C>T | XP_011535776.2:p.His330= | |
| XM_011537475.2:c.804C>T | XP_011535777.2:p.His268= | |
| XM_011537476.2:c.597C>T | XP_011535778.1:p.His199= | |
| NM_019616.4:c.837C>T MANE Select | NP_062562.1:p.His279= | |
| NR_051961.2:n.921C>T | ||
| NM_001267554.2:c.651C>T | NP_001254483.1:p.His217= |