Linked Data
dbSNP Id:
rs13440581
ExAC:
X:150349871 A / G
gnomAD v2:
X-150349871-A-G
gnomAD v3:
X-151181399-A-G
gnomAD v4:
X-151181399-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181399A>G , CM000685.2:g.151181399A>G | GRCh38 |
| NC_000023.10:g.150349871A>G , CM000685.1:g.150349871A>G | GRCh37 |
| NC_000023.9:g.150100529A>G | NCBI36 |
| NG_016405.1:g.9816A>G | |
| NG_016405.2:g.9816A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218316.4:c.1816A>G MANE Select | ENSP00000218316.3:p.Ile606Val | |
| ENST00000218316.3:c.1816A>G | ENSP00000218316.3:p.Ile606Val | |
| ENST00000617907.1:c.1810A>G | ENSP00000484496.1:p.Ile604Val | |
| NM_004224.3:c.1816A>G MANE Select | NP_004215.2:p.Ile606Val | |
| XM_011531216.1:c.1075A>G | XP_011529518.1:p.Ile359Val | |
| XM_011531216.2:c.1075A>G | XP_011529518.1:p.Ile359Val |