Linked Data
dbSNP Id:
rs200693831
ExAC:
13:113768273 G / A
gnomAD v2:
13-113768273-G-A
gnomAD v3:
13-113113959-G-A
gnomAD v4:
13-113113959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113113959G>A , CM000675.2:g.113113959G>A | GRCh38 |
| NC_000013.10:g.113768273G>A , CM000675.1:g.113768273G>A | GRCh37 |
| NC_000013.9:g.112816274G>A | NCBI36 |
| NG_009262.1:g.13169G>A , LRG_554:g.13169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.363G>A MANE Select | ENSP00000329546.4:p.Thr121= | |
| ENST00000346342.7:c.363G>A | ENSP00000329546.3:p.Thr121= | |
| ENST00000375581.3:c.429G>A | ENSP00000364731.3:p.Thr143= | |
| ENST00000444337.1:c.*171G>A | ENSP00000387669.1:n.*171G>A | |
| ENST00000473085.1:n.310G>A | ||
| ENST00000479674.1:n.696G>A | ||
| ENST00000541084.5:c.177G>A | ENSP00000442051.2:p.Thr59= | |
| NM_000131.4:c.429G>A , LRG_554t1:c.429G>A | NP_000122.1:p.Thr143= | |
| NM_001267554.1:c.177G>A | NP_001254483.1:p.Thr59= | |
| NM_019616.3:c.363G>A , LRG_554t2:c.363G>A | NP_062562.1:p.Thr121= | |
| NR_051961.1:n.450G>A | ||
| XM_006719963.2:c.363G>A | XP_006720026.1:p.Thr121= | |
| XM_011537474.1:c.363G>A | XP_011535776.1:p.Thr121= | |
| XM_011537475.1:c.177G>A | XP_011535777.1:p.Thr59= | |
| XM_011537477.1:c.324G>A | XP_011535779.1:p.Thr108= | |
| XM_006719963.3:c.408G>A | XP_006720026.2:p.Thr136= | |
| XM_011537474.2:c.408G>A | XP_011535776.2:p.Thr136= | |
| XM_011537475.2:c.222G>A | XP_011535777.2:p.Thr74= | |
| NM_019616.4:c.363G>A MANE Select | NP_062562.1:p.Thr121= | |
| NR_051961.2:n.447G>A | ||
| NM_001267554.2:c.177G>A | NP_001254483.1:p.Thr59= |