Linked Data
ClinVar Variation Id:
575884
dbSNP Id:
rs1057518943
gnomAD v2:
11-68673631-G-C
gnomAD v3:
11-68906163-G-C
gnomAD v4:
11-68906163-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68906163G>C , CM000673.2:g.68906163G>C | GRCh38 |
| NC_000011.9:g.68673631G>C , CM000673.1:g.68673631G>C | GRCh37 |
| NC_000011.8:g.68430207G>C | NCBI36 |
| NG_007976.1:g.7313G>C , LRG_250:g.7313G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.181G>C MANE Select | ENSP00000255078.4:p.Gly61Arg | |
| ENST00000539224.2:c.144G>C | ||
| ENST00000674583.1:c.144G>C | ||
| ENST00000674597.1:c.67+28G>C | ||
| ENST00000674729.1:n.124G>C | ||
| ENST00000674955.1:c.181G>C | ENSP00000502463.1:p.Gly61Arg | |
| ENST00000675142.1:n.144G>C | ||
| ENST00000675469.1:c.95G>C | ||
| ENST00000675615.1:c.181G>C | ENSP00000502413.1:p.Gly61Arg | |
| ENST00000675674.1:n.144G>C | ||
| ENST00000675800.1:n.126G>C | ||
| ENST00000675873.1:c.144G>C | ||
| ENST00000676173.1:n.221G>C | ||
| ENST00000676228.1:c.181G>C | ENSP00000502375.1:p.Gly61Arg | |
| ENST00000255078.7:c.181G>C | ENSP00000255078.3:p.Gly61Arg | |
| ENST00000539224.1:c.181G>C | ENSP00000440465.1:p.Gly61Arg | |
| ENST00000544541.1:c.87-1982G>C | ENSP00000443343.1:n.87-1982G>C | |
| ENST00000545146.1:c.181G>C | ENSP00000456366.1:p.Gly61Arg | |
| NM_002180.2:c.181G>C , LRG_250t1:c.181G>C | NP_002171.2:p.Gly61Arg | |
| XM_005273974.2:c.-835G>C | XP_005274031.1:n.-835G>C | |
| XM_005273976.1:c.181G>C | XP_005274033.1:p.Gly61Arg | |
| XR_247198.1:n.283G>C | ||
| XR_949903.1:n.283G>C | ||
| XM_005273976.2:c.181G>C | XP_005274033.1:p.Gly61Arg | |
| XM_017017669.2:c.-733G>C | XP_016873158.1:n.-733G>C | |
| XM_017017671.2:c.181G>C | XP_016873160.1:p.Gly61Arg | |
| XR_949903.3:n.279G>C | ||
| NM_002180.3:c.181G>C MANE Select | NP_002171.2:p.Gly61Arg |