Linked Data
dbSNP Id:
rs568493821
ExAC:
12:80752544 C / G
gnomAD v2:
12-80752544-C-G
gnomAD v4:
12-80358764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358764C>G , CM000674.2:g.80358764C>G | GRCh38 |
| NC_000012.11:g.80752544C>G , CM000674.1:g.80752544C>G | GRCh37 |
| NC_000012.10:g.79276675C>G | NCBI36 |
| NG_033008.1:g.154312C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6215C>G MANE Select | ENSP00000447211.2:p.Thr2072Arg | |
| ENST00000642294.1:c.155C>G | ENSP00000493572.1:p.Thr52Arg | |
| ENST00000646859.1:c.6080C>G | ENSP00000496036.1:p.Thr2027Arg | |
| ENST00000298820.7:c.1516C>G | ||
| ENST00000458043.6:c.6188C>G | ENSP00000400895.2:p.Thr2063Arg | |
| ENST00000546620.5:n.471C>G | ||
| ENST00000547103.5:c.6152C>G | ENSP00000447211.1:p.Thr2051Arg | |
| ENST00000550182.2:c.239C>G | ENSP00000449641.1:p.Thr80Arg | |
| ENST00000551340.5:c.343C>G | ||
| NM_173591.3:c.6188C>G | NP_775862.3:p.Thr2063Arg | |
| XM_005268802.2:c.6239C>G | XP_005268859.1:p.Thr2080Arg | |
| XM_011538191.1:c.6239C>G | XP_011536493.1:p.Thr2080Arg | |
| XM_011538192.1:c.6086C>G | XP_011536494.1:p.Thr2029Arg | |
| XM_011538193.1:c.5873C>G | XP_011536495.1:p.Thr1958Arg | |
| XM_005268802.3:c.6239C>G | XP_005268859.1:p.Thr2080Arg | |
| XM_011538192.2:c.6086C>G | XP_011536494.1:p.Thr2029Arg | |
| NM_001368062.1:c.6053C>G | NP_001354991.1:p.Thr2018Arg | |
| NM_001368062.3:c.6080C>G | NP_001354991.2:p.Thr2027Arg | |
| NM_001378609.3:c.6215C>G MANE Select | NP_001365538.2:p.Thr2072Arg | |
| NM_001378610.3:c.6215C>G | NP_001365539.2:p.Thr2072Arg | |
| NM_173591.7:c.6215C>G | NP_775862.4:p.Thr2072Arg |