Linked Data
gnomAD v4:
22-37733339-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733339G>T , CM000684.2:g.37733339G>T | GRCh38 |
| NC_000022.10:g.38129346G>T , CM000684.1:g.38129346G>T | GRCh37 |
| NC_000022.9:g.36459292G>T | NCBI36 |
| NG_012857.1:g.41352G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3989G>T MANE Select | ENSP00000496394.1:p.Gly1330Val | |
| ENST00000344404.10:c.*3472G>T | ENSP00000340312.6:n.*3472G>T | |
| ENST00000406386.7:c.3989G>T | ENSP00000384312.3:p.Gly1330Val | |
| NM_001039141.2:c.3989G>T | NP_001034230.1:p.Gly1330Val | |
| XM_011530646.1:c.512-2980C>A | XP_011528948.1:n.512-2980C>A | |
| NM_001039141.3:c.3989G>T MANE Select | NP_001034230.1:p.Gly1330Val |