Linked Data
dbSNP Id:
rs762351550
ExAC:
20:32026718 T / C
gnomAD v2:
20-32026718-T-C
gnomAD v4:
20-33438912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438912T>C , CM000682.2:g.33438912T>C | GRCh38 |
| NC_000020.10:g.32026718T>C , CM000682.1:g.32026718T>C | GRCh37 |
| NC_000020.9:g.31490379T>C | NCBI36 |
| NG_011622.1:g.9981A>G , LRG_332:g.9981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.425A>G MANE Select | ENSP00000217381.2:p.Asp142Gly | |
| ENST00000217381.2:c.425A>G | ENSP00000217381.2:p.Asp142Gly | |
| NM_003098.2:c.425A>G , LRG_332t1:c.425A>G | NP_003089.1:p.Asp142Gly | |
| XM_005260517.1:c.425A>G | XP_005260574.1:p.Asp142Gly | |
| XM_011529007.1:c.425A>G | XP_011527309.1:p.Asp142Gly | |
| XM_011529008.1:c.425A>G | XP_011527310.1:p.Asp142Gly | |
| XR_936612.1:n.658A>G | ||
| XM_024451971.1:c.98A>G | XP_024307739.1:p.Asp33Gly | |
| NM_003098.3:c.425A>G MANE Select | NP_003089.1:p.Asp142Gly |