Linked Data
dbSNP Id:
rs766294656
ExAC:
11:68701328 G / C
gnomAD v2:
11-68701328-G-C
gnomAD v4:
11-68933860-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933860G>C , CM000673.2:g.68933860G>C | GRCh38 |
| NC_000011.9:g.68701328G>C , CM000673.1:g.68701328G>C | GRCh37 |
| NC_000011.8:g.68457904G>C | NCBI36 |
| NG_007976.1:g.35010G>C , LRG_250:g.35010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1484G>C MANE Select | ENSP00000255078.4:p.Gly495Ala | |
| ENST00000674955.1:c.*201G>C | ENSP00000502463.1:n.*201G>C | |
| ENST00000675118.1:c.972G>C | ||
| ENST00000675205.1:n.183+379G>C | ||
| ENST00000675615.1:c.1484G>C | ENSP00000502413.1:p.Gly495Ala | |
| ENST00000675648.1:n.859G>C | ||
| ENST00000675997.1:n.113-604G>C | ||
| ENST00000676173.1:n.2229G>C | ||
| ENST00000676228.1:c.*807G>C | ENSP00000502375.1:n.*807G>C | |
| ENST00000255078.7:c.1484G>C | ENSP00000255078.3:p.Gly495Ala | |
| ENST00000537458.5:n.601G>C | ||
| ENST00000539064.5:n.1243G>C | ||
| ENST00000541229.5:n.179G>C | ||
| ENST00000543739.5:n.601G>C | ||
| NM_002180.2:c.1484G>C , LRG_250t1:c.1484G>C | NP_002171.2:p.Gly495Ala | |
| XM_005273974.2:c.473G>C | XP_005274031.1:p.Gly158Ala | |
| XM_005273975.2:c.356G>C | XP_005274032.1:p.Gly119Ala | |
| XM_011544994.1:c.251G>C | XP_011543296.1:p.Gly84Ala | |
| XR_949903.1:n.1586G>C | ||
| XM_005273975.3:c.356G>C | XP_005274032.1:p.Gly119Ala | |
| XM_017017669.2:c.473G>C | XP_016873158.1:p.Gly158Ala | |
| XM_017017670.2:c.473G>C | XP_016873159.1:p.Gly158Ala | |
| XM_017017671.2:c.1484G>C | XP_016873160.1:p.Gly495Ala | |
| XR_949903.3:n.1582G>C | ||
| NM_002180.3:c.1484G>C MANE Select | NP_002171.2:p.Gly495Ala |