Linked Data
dbSNP Id:
rs1567635214
gnomAD v2:
17-4802003-A-G
gnomAD v4:
17-4898708-A-G
MyVariant Identifiers:
chr17:g.4802003A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898708A>G , CM000679.2:g.4898708A>G | GRCh38 |
| NC_000017.10:g.4802003A>G , CM000679.1:g.4802003A>G | GRCh37 |
| NC_000017.9:g.4742782A>G | NCBI36 |
| NG_008029.2:g.9368T>C | |
| NG_028005.1:g.70369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*28T>C MANE Select | ENSP00000497829.1:n.*28T>C | |
| ENST00000649830.1:c.*146T>C | ENSP00000496907.1:n.*146T>C | |
| ENST00000652550.1:n.1236T>C | ||
| ENST00000293780.4:c.*28T>C | ENSP00000293780.4:n.*28T>C | |
| ENST00000572438.1:n.1196T>C | ||
| NM_000080.3:c.*28T>C | NP_000071.1:n.*28T>C | |
| NM_000080.4:c.*28T>C MANE Select | NP_000071.1:n.*28T>C | |
| XM_017024115.1:c.*28T>C | XP_016879604.1:n.*28T>C |