Linked Data
dbSNP Id:
rs772653091
ExAC:
16:3828040 A / C
gnomAD v2:
16-3828040-A-C
gnomAD v3:
16-3778039-A-C
gnomAD v4:
16-3778039-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778039A>C , CM000678.2:g.3778039A>C | GRCh38 |
| NC_000016.9:g.3828040A>C , CM000678.1:g.3828040A>C | GRCh37 |
| NC_000016.8:g.3768041A>C | NCBI36 |
| NG_009873.1:g.107082T>G | |
| NG_009873.2:g.107675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2085T>G MANE Select | ENSP00000262367.5:p.Ile695Met | |
| ENST00000262367.9:c.2085T>G | ENSP00000262367.5:p.Ile695Met | |
| ENST00000382070.7:c.1971T>G | ENSP00000371502.3:p.Ile657Met | |
| ENST00000570939.2:c.690T>G | ENSP00000461002.2:p.Ile230Met | |
| ENST00000571826.5:c.134T>G | ||
| ENST00000572134.1:c.398T>G | ||
| ENST00000634839.1:n.247T>G | ||
| NM_001079846.1:c.1971T>G | NP_001073315.1:p.Ile657Met | |
| NM_004380.2:c.2085T>G | NP_004371.2:p.Ile695Met | |
| XM_005255124.3:c.2085T>G | XP_005255181.1:p.Ile695Met | |
| XM_005255125.3:c.2085T>G | XP_005255182.1:p.Ile695Met | |
| XM_006720848.2:c.2085T>G | XP_006720911.1:p.Ile695Met | |
| XM_011522380.1:c.2031T>G | XP_011520682.1:p.Ile677Met | |
| XM_011522381.1:c.1332T>G | XP_011520683.1:p.Ile444Met | |
| XM_011522382.1:c.2085T>G | XP_011520684.1:p.Ile695Met | |
| XM_005255124.4:c.2085T>G | XP_005255181.1:p.Ile695Met | |
| XM_005255125.4:c.2085T>G | XP_005255182.1:p.Ile695Met | |
| XM_006720848.3:c.2085T>G | XP_006720911.1:p.Ile695Met | |
| XM_011522381.2:c.1332T>G | XP_011520683.1:p.Ile444Met | |
| XM_011522382.3:c.2085T>G | XP_011520684.1:p.Ile695Met | |
| XM_017022944.1:c.2085T>G | XP_016878433.1:p.Ile695Met | |
| NM_004380.3:c.2085T>G MANE Select | NP_004371.2:p.Ile695Met |