Linked Data
dbSNP Id:
rs996309599
gnomAD v4:
9-77794481-G-T
MyVariant Identifiers:
chr9:g.80409397G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794481G>T , CM000671.2:g.77794481G>T | GRCh38 |
| NC_000009.11:g.80409397G>T , CM000671.1:g.80409397G>T | GRCh37 |
| NC_000009.10:g.79599217G>T | NCBI36 |
| NG_027904.2:g.241823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.717C>A MANE Select | ENSP00000286548.4:p.Leu239= | |
| ENST00000286548.8:c.717C>A | ENSP00000286548.4:p.Leu239= | |
| NM_002072.4:c.717C>A | NP_002063.2:p.Leu239= | |
| XM_017014628.2:c.543C>A | XP_016870117.1:p.Leu181= | |
| NM_002072.5:c.717C>A MANE Select | NP_002063.2:p.Leu239= |