Linked Data
dbSNP Id:
rs1907857933
gnomAD v4:
17-50199313-G-C
MyVariant Identifiers:
chr17:g.48276674G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199313G>C , CM000679.2:g.50199313G>C | GRCh38 |
| NC_000017.10:g.48276674G>C , CM000679.1:g.48276674G>C | GRCh37 |
| NC_000017.9:g.45631673G>C | NCBI36 |
| NG_007400.1:g.7327C>G , LRG_1:g.7327C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.384C>G MANE Select | ENSP00000225964.6:p.Pro128= | |
| ENST00000225964.9:c.384C>G | ENSP00000225964.5:p.Pro128= | |
| ENST00000474644.1:n.605C>G | ||
| ENST00000507689.1:c.438C>G | ENSP00000460459.1:p.Pro146= | |
| NM_000088.3:c.384C>G , LRG_1t1:c.384C>G | NP_000079.2:p.Pro128= | |
| XM_005257058.3:c.384C>G | XP_005257115.2:p.Pro128= | |
| XM_005257059.3:c.384C>G | XP_005257116.2:p.Pro128= | |
| XM_011524341.1:c.384C>G | XP_011522643.1:p.Pro128= | |
| XM_005257058.4:c.384C>G | XP_005257115.2:p.Pro128= | |
| XM_005257059.4:c.384C>G | XP_005257116.2:p.Pro128= | |
| NM_000088.4:c.384C>G MANE Select | NP_000079.2:p.Pro128= |