Linked Data
dbSNP Id:
rs1553242655
gnomAD v3:
1-147908325-C-CCGGACCAGGGCAG
gnomAD v4:
1-147908325-C-CCGGACCAGGGCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908328_147908340dup , CM000663.2:g.147908328_147908340dup | GRCh38 |
| NC_000001.10:g.147380455_147380467dup , CM000663.1:g.147380455_147380467dup | GRCh37 |
| NC_000001.9:g.145847079_145847091dup | NCBI36 |
| NG_016242.1:g.10510_10522dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.373_385dup MANE Select | ENSP00000358238.1:p.Val129GlyfsTer15 | |
| ENST00000369235.1:c.373_385dup | ENSP00000358238.1:p.Val129GlyfsTer15 | |
| NM_005267.4:c.373_385dup | NP_005258.2:p.Val129GlyfsTer15 | |
| XM_011509416.1:c.373_385dup | XP_011507718.1:p.Val129GlyfsTer15 | |
| XM_011509417.1:c.373_385dup | XP_011507719.1:p.Val129GlyfsTer15 | |
| XM_011509417.2:c.373_385dup | XP_011507719.1:p.Val129GlyfsTer15 | |
| XR_002956281.1:n.1288_1300dup | ||
| NM_005267.5:c.373_385dup MANE Select | NP_005258.2:p.Val129GlyfsTer15 |