Linked Data
ClinVar Variation Id:
304591
ClinVar RCV Id:
RCV000641569
dbSNP Id:
rs16937864
ExAC:
11:44254001 G / A
gnomAD v2:
11-44254001-G-A
gnomAD v3:
11-44232451-G-A
gnomAD v4:
11-44232451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44232451G>A , CM000673.2:g.44232451G>A | GRCh38 |
| NC_000011.9:g.44254001G>A , CM000673.1:g.44254001G>A | GRCh37 |
| NC_000011.8:g.44210577G>A | NCBI36 |
| NG_007560.1:g.141903G>A , LRG_494:g.141903G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343631.4:c.1761G>A | ENSP00000342656.3:p.Thr587= | |
| ENST00000395673.8:c.1761G>A | ENSP00000379032.4:p.Thr587= | |
| ENST00000682359.1:c.1527G>A | ENSP00000508226.1:p.Thr509= | |
| ENST00000682711.1:c.135G>A | ENSP00000506803.1:p.Thr45= | |
| ENST00000682815.1:c.*721G>A | ENSP00000507234.1:n.*721G>A | |
| ENST00000682947.1:n.1745G>A | ||
| ENST00000682993.1:c.1761G>A | ENSP00000507580.1:p.Thr587= | |
| ENST00000683000.1:c.1761G>A | ENSP00000508361.1:p.Thr587= | |
| ENST00000683204.1:n.2076G>A | ||
| ENST00000683299.1:n.2178G>A | ||
| ENST00000683870.1:c.*455G>A | ENSP00000507922.1:n.*455G>A | |
| ENST00000683881.1:n.4322G>A | ||
| ENST00000684039.1:c.*233G>A | ENSP00000507677.1:n.*233G>A | |
| ENST00000684124.1:c.*653G>A | ENSP00000508332.1:n.*653G>A | |
| ENST00000684437.1:n.2109G>A | ||
| ENST00000684533.1:c.1425G>A | ENSP00000507915.1:p.Thr475= | |
| ENST00000533608.7:c.1761G>A MANE Select | ENSP00000431173.2:p.Thr587= | |
| ENST00000343631.3:c.1761G>A | ENSP00000342656.3:p.Thr587= | |
| ENST00000358681.8:c.1791G>A | ENSP00000351509.4:p.Thr597= | |
| ENST00000395673.7:c.1860G>A | ENSP00000379032.3:p.Thr620= | |
| ENST00000528159.1:n.194G>A | ||
| ENST00000533608.5:c.1761G>A | ENSP00000431173.1:p.Thr587= | |
| NM_000401.3:c.1860G>A , LRG_494t1:c.1860G>A | NP_000392.3:p.Thr620= | |
| NM_001178083.1:c.1791G>A | NP_001171554.1:p.Thr597= | |
| NM_207122.1:c.1761G>A , LRG_494t2:c.1761G>A | NP_997005.1:p.Thr587= | |
| XM_011519950.1:c.1899G>A | XP_011518252.1:p.Thr633= | |
| XM_011519951.1:c.1800G>A | XP_011518253.1:p.Thr600= | |
| NM_001178083.2:c.1791G>A | NP_001171554.1:p.Thr597= | |
| NM_207122.2:c.1761G>A MANE Select | NP_997005.1:p.Thr587= | |
| NM_001178083.3:c.1791G>A | NP_001171554.1:p.Thr597= | |
| NM_001389628.1:c.1761G>A | NP_001376557.1:p.Thr587= | |
| NM_001389630.1:c.1761G>A | NP_001376559.1:p.Thr587= |