Linked Data
dbSNP Id:
rs756662416
ExAC:
12:110034340 C / G
gnomAD v2:
12-110034340-C-G
gnomAD v3:
12-109596535-C-G
gnomAD v4:
12-109596535-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596535C>G , CM000674.2:g.109596535C>G | GRCh38 |
| NC_000012.11:g.110034340C>G , CM000674.1:g.110034340C>G | GRCh37 |
| NC_000012.10:g.108518723C>G | NCBI36 |
| NG_007702.1:g.27841C>G , LRG_156:g.27841C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.306C>G | ENSP00000439134.1:p.Thr102= | |
| ENST00000546277.6:c.1149C>G | ENSP00000438153.2:p.Thr383= | |
| ENST00000636529.2:n.788C>G | ||
| ENST00000697195.1:c.*913C>G | ENSP00000513181.1:n.*913C>G | |
| ENST00000697196.1:c.*322C>G | ENSP00000513182.1:n.*322C>G | |
| ENST00000697197.1:n.3178C>G | ||
| ENST00000697198.1:n.1533C>G | ||
| ENST00000228510.8:c.1149C>G MANE Select | ENSP00000228510.3:p.Thr383= | |
| ENST00000636529.1:c.774C>G | ||
| ENST00000636996.1:c.997C>G | ||
| ENST00000228510.7:c.1149C>G | ENSP00000228510.3:p.Thr383= | |
| ENST00000392727.7:c.993C>G | ENSP00000376487.3:p.Thr331= | |
| ENST00000447878.6:c.*596C>G | ENSP00000415555.2:n.*596C>G | |
| ENST00000537237.5:c.*822C>G | ENSP00000445382.1:n.*822C>G | |
| ENST00000539575.4:c.1149C>G | ENSP00000443551.2:p.Thr383= | |
| ENST00000539696.5:c.306C>G | ENSP00000439134.1:p.Thr102= | |
| ENST00000540353.1:n.3382C>G | ||
| ENST00000625889.2:c.993C>G | ENSP00000486846.1:p.Thr331= | |
| ENST00000629016.2:c.*596C>G | ENSP00000486804.1:n.*596C>G | |
| NM_000431.3:c.1149C>G | NP_000422.1:p.Thr383= | |
| NM_001114185.2:c.1149C>G | NP_001107657.1:p.Thr383= | |
| NM_001301182.1:c.993C>G | NP_001288111.1:p.Thr331= | |
| XM_011538372.1:c.1149C>G | XP_011536674.1:p.Thr383= | |
| XM_017019313.2:c.993C>G | XP_016874802.1:p.Thr331= | |
| XM_017019314.1:c.1149C>G | XP_016874803.1:p.Thr383= | |
| NM_000431.4:c.1149C>G MANE Select | NP_000422.1:p.Thr383= | |
| NM_001114185.3:c.1149C>G | NP_001107657.1:p.Thr383= | |
| NM_001301182.2:c.993C>G | NP_001288111.1:p.Thr331= |