Linked Data
gnomAD v4:
12-65238749-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238754dup , CM000674.2:g.65238754dup | GRCh38 |
| NC_000012.11:g.65632534dup , CM000674.1:g.65632534dup | GRCh37 |
| NC_000012.10:g.63918801dup | NCBI36 |
| NG_016210.1:g.74184dup | |
| NG_016210.2:g.74184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1861dup MANE Select | ENSP00000308369.2:p.Trp621LeufsTer? | |
| ENST00000308330.2:c.1861dup | ENSP00000308369.2:p.Trp621LeufsTer? | |
| NM_001167614.1:c.1858dup | NP_001161086.1:p.Trp620LeufsTer? | |
| NM_014319.4:c.1861dup | NP_055134.2:p.Trp621LeufsTer? | |
| NM_014319.5:c.1861dup MANE Select | NP_055134.2:p.Trp621LeufsTer? | |
| NM_001167614.2:c.1858dup | NP_001161086.1:p.Trp620LeufsTer? |