Linked Data
gnomAD v4:
14-105150759-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105150759G>A , CM000676.2:g.105150759G>A | GRCh38 |
| NC_000014.8:g.105617096G>A , CM000676.1:g.105617096G>A | GRCh37 |
| NC_000014.7:g.104688141G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331782.8:c.1447C>T MANE Select | ENSP00000328169.3:p.Gln483Ter | |
| ENST00000331782.7:c.1447C>T | ENSP00000328169.3:p.Gln483Ter | |
| ENST00000347004.2:c.1333C>T | ENSP00000328566.2:p.Gln445Ter | |
| NM_002226.4:c.1447C>T | NP_002217.3:p.Gln483Ter | |
| NM_145159.2:c.1333C>T | NP_660142.1:p.Gln445Ter | |
| XM_011536736.1:c.1447C>T | XP_011535038.1:p.Gln483Ter | |
| XR_001750303.2:n.1508C>T | ||
| NM_002226.5:c.1447C>T MANE Select | NP_002217.3:p.Gln483Ter | |
| NM_145159.3:c.1333C>T | NP_660142.1:p.Gln445Ter |