Linked Data
dbSNP Id:
rs761768017
ExAC:
11:113803114 G / C
gnomAD v2:
11-113803114-G-C
gnomAD v4:
11-113932392-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932392G>C , CM000673.2:g.113932392G>C | GRCh38 |
| NC_000011.9:g.113803114G>C , CM000673.1:g.113803114G>C | GRCh37 |
| NC_000011.8:g.113308324G>C | NCBI36 |
| NG_011483.1:g.32526G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.472G>C MANE Select | ENSP00000260191.2:p.Glu158Gln | |
| ENST00000260191.7:c.472G>C | ENSP00000260191.2:p.Glu158Gln | |
| ENST00000260191.6:c.472G>C | ENSP00000260191.2:p.Glu158Gln | |
| ENST00000537778.5:c.439G>C | ENSP00000443118.1:p.Glu147Gln | |
| ENST00000543092.1:c.258G>C | ||
| NM_006028.4:c.472G>C | NP_006019.1:p.Glu158Gln | |
| XM_011543063.1:c.439G>C | XP_011541365.1:p.Glu147Gln | |
| XM_011543064.1:c.271G>C | XP_011541366.1:p.Glu91Gln | |
| XM_011543065.1:c.265G>C | XP_011541367.1:p.Glu89Gln | |
| XM_011543066.1:c.439G>C | XP_011541368.1:p.Glu147Gln | |
| NM_001363563.1:c.439G>C | NP_001350492.1:p.Glu147Gln | |
| XM_017018552.2:c.265G>C | XP_016874041.1:p.Glu89Gln | |
| XM_024448767.1:c.178G>C | XP_024304535.1:p.Glu60Gln | |
| XR_001748034.2:n.723G>C | ||
| NM_001363563.2:c.439G>C | NP_001350492.1:p.Glu147Gln | |
| NM_006028.5:c.472G>C MANE Select | NP_006019.1:p.Glu158Gln |