Linked Data
dbSNP Id:
rs200478651
ExAC:
13:113772728 C / T
gnomAD v2:
13-113772728-C-T
gnomAD v3:
13-113118414-C-T
gnomAD v4:
13-113118414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118414C>T , CM000675.2:g.113118414C>T | GRCh38 |
| NC_000013.10:g.113772728C>T , CM000675.1:g.113772728C>T | GRCh37 |
| NC_000013.9:g.112820729C>T | NCBI36 |
| NG_009258.1:g.616C>T , LRG_548:g.616C>T | |
| NG_009262.1:g.17624C>T , LRG_554:g.17624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.741C>T MANE Select | ENSP00000329546.4:p.Gly247= | |
| ENST00000346342.7:c.741C>T | ENSP00000329546.3:p.Gly247= | |
| ENST00000375581.3:c.807C>T | ENSP00000364731.3:p.Gly269= | |
| ENST00000541084.5:c.555C>T | ENSP00000442051.2:p.Gly185= | |
| NM_000131.4:c.807C>T , LRG_554t1:c.807C>T | NP_000122.1:p.Gly269= | |
| NM_001267554.1:c.555C>T | NP_001254483.1:p.Gly185= | |
| NM_019616.3:c.741C>T , LRG_554t2:c.741C>T | NP_062562.1:p.Gly247= | |
| NR_051961.1:n.828C>T | ||
| XM_006719963.2:c.600C>T | XP_006720026.1:p.Gly200= | |
| XM_011537474.1:c.849C>T | XP_011535776.1:p.Gly283= | |
| XM_011537475.1:c.663C>T | XP_011535777.1:p.Gly221= | |
| XM_011537476.1:c.501C>T | XP_011535778.1:p.Gly167= | |
| XM_011537477.1:c.810C>T | XP_011535779.1:p.Gly270= | |
| XM_006719963.3:c.645C>T | XP_006720026.2:p.Gly215= | |
| XM_011537474.2:c.894C>T | XP_011535776.2:p.Gly298= | |
| XM_011537475.2:c.708C>T | XP_011535777.2:p.Gly236= | |
| XM_011537476.2:c.501C>T | XP_011535778.1:p.Gly167= | |
| NM_019616.4:c.741C>T MANE Select | NP_062562.1:p.Gly247= | |
| NR_051961.2:n.825C>T | ||
| NM_001267554.2:c.555C>T | NP_001254483.1:p.Gly185= |