Linked Data
ClinVar Variation Id:
932544
ClinVar RCV Id:
RCV001200399
dbSNP Id:
rs1350802127
gnomAD v2:
16-3807864-A-G
gnomAD v4:
16-3757863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3757863A>G , CM000678.2:g.3757863A>G | GRCh38 |
| NC_000016.9:g.3807864A>G , CM000678.1:g.3807864A>G | GRCh37 |
| NC_000016.8:g.3747865A>G | NCBI36 |
| NG_009873.1:g.127258T>C | |
| NG_009873.2:g.127851T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.3555T>C MANE Select | ENSP00000262367.5:p.Phe1185= | |
| ENST00000262367.9:c.3555T>C | ENSP00000262367.5:p.Phe1185= | |
| ENST00000382070.7:c.3441T>C | ENSP00000371502.3:p.Phe1147= | |
| ENST00000570939.2:c.2160T>C | ENSP00000461002.2:p.Phe720= | |
| NM_001079846.1:c.3441T>C | NP_001073315.1:p.Phe1147= | |
| NM_004380.2:c.3555T>C | NP_004371.2:p.Phe1185= | |
| XM_005255124.3:c.3510T>C | XP_005255181.1:p.Phe1170= | |
| XM_005255125.3:c.3138T>C | XP_005255182.1:p.Phe1046= | |
| XM_006720848.2:c.3555T>C | XP_006720911.1:p.Phe1185= | |
| XM_011522380.1:c.3501T>C | XP_011520682.1:p.Phe1167= | |
| XM_011522381.1:c.2802T>C | XP_011520683.1:p.Phe934= | |
| XM_011522382.1:c.3555T>C | XP_011520684.1:p.Phe1185= | |
| XM_005255124.4:c.3510T>C | XP_005255181.1:p.Phe1170= | |
| XM_005255125.4:c.3138T>C | XP_005255182.1:p.Phe1046= | |
| XM_006720848.3:c.3555T>C | XP_006720911.1:p.Phe1185= | |
| XM_011522381.2:c.2802T>C | XP_011520683.1:p.Phe934= | |
| XM_011522382.3:c.3555T>C | XP_011520684.1:p.Phe1185= | |
| XM_017022944.1:c.3549T>C | XP_016878433.1:p.Phe1183= | |
| NM_004380.3:c.3555T>C MANE Select | NP_004371.2:p.Phe1185= |