Linked Data
dbSNP Id:
rs138643476
ExAC:
9:80409427 T / A
gnomAD v2:
9-80409427-T-A
gnomAD v4:
9-77794511-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794511T>A , CM000671.2:g.77794511T>A | GRCh38 |
| NC_000009.11:g.80409427T>A , CM000671.1:g.80409427T>A | GRCh37 |
| NC_000009.10:g.79599247T>A | NCBI36 |
| NG_027904.2:g.241793A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.687A>T MANE Select | ENSP00000286548.4:p.Leu229= | |
| ENST00000286548.8:c.687A>T | ENSP00000286548.4:p.Leu229= | |
| NM_002072.4:c.687A>T | NP_002063.2:p.Leu229= | |
| XM_017014628.2:c.513A>T | XP_016870117.1:p.Leu171= | |
| NM_002072.5:c.687A>T MANE Select | NP_002063.2:p.Leu229= |