Linked Data
dbSNP Id:
rs1249871887
gnomAD v2:
16-3777734-A-C
gnomAD v3:
16-3727733-A-C
gnomAD v4:
16-3727733-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727733A>C , CM000678.2:g.3727733A>C | GRCh38 |
| NC_000016.9:g.3777734A>C , CM000678.1:g.3777734A>C | GRCh37 |
| NC_000016.8:g.3717735A>C | NCBI36 |
| NG_009873.1:g.157388T>G | |
| NG_009873.2:g.157981T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7314T>G MANE Select | ENSP00000262367.5:p.Phe2438Leu | |
| ENST00000262367.9:c.7314T>G | ENSP00000262367.5:p.Phe2438Leu | |
| ENST00000382070.7:c.7200T>G | ENSP00000371502.3:p.Phe2400Leu | |
| NM_001079846.1:c.7200T>G | NP_001073315.1:p.Phe2400Leu | |
| NM_004380.2:c.7314T>G | NP_004371.2:p.Phe2438Leu | |
| XM_005255124.3:c.7269T>G | XP_005255181.1:p.Phe2423Leu | |
| XM_005255125.3:c.6897T>G | XP_005255182.1:p.Phe2299Leu | |
| XM_006720848.2:c.7053T>G | XP_006720911.1:p.Phe2351Leu | |
| XM_011522380.1:c.7260T>G | XP_011520682.1:p.Phe2420Leu | |
| XM_011522381.1:c.6561T>G | XP_011520683.1:p.Phe2187Leu | |
| XM_005255124.4:c.7269T>G | XP_005255181.1:p.Phe2423Leu | |
| XM_005255125.4:c.6897T>G | XP_005255182.1:p.Phe2299Leu | |
| XM_006720848.3:c.7053T>G | XP_006720911.1:p.Phe2351Leu | |
| XM_011522381.2:c.6561T>G | XP_011520683.1:p.Phe2187Leu | |
| XM_017022944.1:c.7308T>G | XP_016878433.1:p.Phe2436Leu | |
| NM_004380.3:c.7314T>G MANE Select | NP_004371.2:p.Phe2438Leu |