Linked Data
dbSNP Id:
rs996309599
gnomAD v2:
9-80409397-G-C
gnomAD v3:
9-77794481-G-C
gnomAD v4:
9-77794481-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794481G>C , CM000671.2:g.77794481G>C | GRCh38 |
| NC_000009.11:g.80409397G>C , CM000671.1:g.80409397G>C | GRCh37 |
| NC_000009.10:g.79599217G>C | NCBI36 |
| NG_027904.2:g.241823C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.717C>G MANE Select | ENSP00000286548.4:p.Leu239= | |
| ENST00000286548.8:c.717C>G | ENSP00000286548.4:p.Leu239= | |
| NM_002072.4:c.717C>G | NP_002063.2:p.Leu239= | |
| XM_017014628.2:c.543C>G | XP_016870117.1:p.Leu181= | |
| NM_002072.5:c.717C>G MANE Select | NP_002063.2:p.Leu239= |