Linked Data
ClinVar Variation Id:
485057
dbSNP Id:
rs201958318
ExAC:
11:67250701 G / C
gnomAD v2:
11-67250701-G-C
gnomAD v3:
11-67483230-G-C
gnomAD v4:
11-67483230-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483230G>C , CM000673.2:g.67483230G>C | GRCh38 |
| NC_000011.9:g.67250701G>C , CM000673.1:g.67250701G>C | GRCh37 |
| NC_000011.8:g.67007277G>C | NCBI36 |
| NG_008969.1:g.5197G>C , LRG_460:g.5197G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.49G>C | ||
| ENST00000528641.7:c.72G>C | ENSP00000434982.3:p.Glu24Asp | |
| ENST00000529797.2:n.2G>C | ||
| ENST00000682324.1:c.72G>C | ENSP00000508017.1:p.Glu24Asp | |
| ENST00000682659.1:c.72G>C | ENSP00000507351.1:p.Glu24Asp | |
| ENST00000682699.1:c.72G>C | ENSP00000507935.1:p.Glu24Asp | |
| ENST00000683237.1:c.72G>C | ENSP00000507343.1:p.Glu24Asp | |
| ENST00000684006.1:c.72G>C | ENSP00000507269.1:p.Glu24Asp | |
| ENST00000684657.1:c.72G>C | ENSP00000507961.1:p.Glu24Asp | |
| ENST00000279146.8:c.72G>C MANE Select | ENSP00000279146.3:p.Glu24Asp | |
| ENST00000279146.7:c.72G>C | ENSP00000279146.3:p.Glu24Asp | |
| ENST00000528641.6:c.72G>C | ENSP00000434982.2:p.Glu24Asp | |
| ENST00000529797.1:n.182G>C | ||
| NM_001302960.1:c.72G>C | NP_001289889.1:p.Glu24Asp | |
| NM_003977.3:c.72G>C | NP_003968.3:p.Glu24Asp | |
| XM_024448761.1:c.72G>C | XP_024304529.1:p.Glu24Asp | |
| NM_003977.4:c.72G>C MANE Select | NP_003968.3:p.Glu24Asp | |
| NM_001302960.2:c.72G>C | NP_001289889.1:p.Glu24Asp |