Linked Data
dbSNP Id:
rs2295888
gnomAD v2:
20-33722863-A-G
gnomAD v3:
20-35135060-A-G
gnomAD v4:
20-35135060-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35135060A>G , CM000682.2:g.35135060A>G | GRCh38 |
| NC_000020.10:g.33722863A>G , CM000682.1:g.33722863A>G | GRCh37 |
| NC_000020.9:g.33186524A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374492.8:c.491-111T>C MANE Select | ENSP00000363616.3:n.491-111T>C | |
| ENST00000374491.3:c.380-111T>C | ENSP00000363615.2:n.380-111T>C | |
| ENST00000374492.7:c.491-111T>C | ENSP00000363616.3:n.491-111T>C | |
| NM_001145025.1:c.380-111T>C | NP_001138497.1:n.380-111T>C | |
| NM_018217.2:c.491-111T>C | NP_060687.2:n.491-111T>C | |
| NR_026728.1:n.807-111T>C | ||
| NM_001355008.1:c.368-111T>C | NP_001341937.1:n.368-111T>C | |
| NM_018217.3:c.491-111T>C MANE Select | NP_060687.2:n.491-111T>C | |
| NM_001145025.2:c.380-111T>C | NP_001138497.1:n.380-111T>C | |
| NM_001355008.2:c.368-111T>C | NP_001341937.1:n.368-111T>C | |
| NR_026728.2:n.785-111T>C |