Linked Data
dbSNP Id:
rs759295211
ExAC:
13:113772741 A / G
gnomAD v2:
13-113772741-A-G
gnomAD v3:
13-113118427-A-G
gnomAD v4:
13-113118427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118427A>G , CM000675.2:g.113118427A>G | GRCh38 |
| NC_000013.10:g.113772741A>G , CM000675.1:g.113772741A>G | GRCh37 |
| NC_000013.9:g.112820742A>G | NCBI36 |
| NG_009258.1:g.629A>G , LRG_548:g.629A>G | |
| NG_009262.1:g.17637A>G , LRG_554:g.17637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.754A>G MANE Select | ENSP00000329546.4:p.Ser252Gly | |
| ENST00000346342.7:c.754A>G | ENSP00000329546.3:p.Ser252Gly | |
| ENST00000375581.3:c.820A>G | ENSP00000364731.3:p.Ser274Gly | |
| ENST00000541084.5:c.568A>G | ENSP00000442051.2:p.Ser190Gly | |
| NM_000131.4:c.820A>G , LRG_554t1:c.820A>G | NP_000122.1:p.Ser274Gly | |
| NM_001267554.1:c.568A>G | NP_001254483.1:p.Ser190Gly | |
| NM_019616.3:c.754A>G , LRG_554t2:c.754A>G | NP_062562.1:p.Ser252Gly | |
| NR_051961.1:n.841A>G | ||
| XM_006719963.2:c.613A>G | XP_006720026.1:p.Ser205Gly | |
| XM_011537474.1:c.862A>G | XP_011535776.1:p.Ser288Gly | |
| XM_011537475.1:c.676A>G | XP_011535777.1:p.Ser226Gly | |
| XM_011537476.1:c.514A>G | XP_011535778.1:p.Ser172Gly | |
| XM_011537477.1:c.823A>G | XP_011535779.1:p.Ser275Gly | |
| XM_006719963.3:c.658A>G | XP_006720026.2:p.Ser220Gly | |
| XM_011537474.2:c.907A>G | XP_011535776.2:p.Ser303Gly | |
| XM_011537475.2:c.721A>G | XP_011535777.2:p.Ser241Gly | |
| XM_011537476.2:c.514A>G | XP_011535778.1:p.Ser172Gly | |
| NM_019616.4:c.754A>G MANE Select | NP_062562.1:p.Ser252Gly | |
| NR_051961.2:n.838A>G | ||
| NM_001267554.2:c.568A>G | NP_001254483.1:p.Ser190Gly |