Linked Data
ClinVar Variation Id:
1976932
ClinVar RCV Id:
RCV002736379
dbSNP Id:
rs751120477
ExAC:
16:16263614 A / G
gnomAD v2:
16-16263614-A-G
gnomAD v3:
16-16169757-A-G
gnomAD v4:
16-16169757-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169757A>G , CM000678.2:g.16169757A>G | GRCh38 |
| NC_000016.9:g.16263614A>G , CM000678.1:g.16263614A>G | GRCh37 |
| NC_000016.8:g.16171115A>G | NCBI36 |
| NG_007558.2:g.58715T>C | |
| NG_007558.3:g.58861T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2884T>C | ENSP00000483331.2:p.Phe962Leu | |
| ENST00000205557.12:c.2884T>C MANE Select | ENSP00000205557.7:p.Phe962Leu | |
| ENST00000205557.11:c.2884T>C | ENSP00000205557.7:p.Phe962Leu | |
| ENST00000456970.6:c.2709T>C | ENSP00000405002.2:n.2709T>C | |
| ENST00000622290.4:c.*93T>C | ENSP00000483331.1:n.*93T>C | |
| NM_001171.5:c.2884T>C | NP_001162.4:p.Phe962Leu | |
| XM_011522479.1:c.2851T>C | XP_011520781.1:p.Phe951Leu | |
| XM_011522480.1:c.2542T>C | XP_011520782.1:p.Phe848Leu | |
| XM_011522481.1:c.2542T>C | XP_011520783.1:p.Phe848Leu | |
| XR_932836.1:n.3119T>C | ||
| XR_932837.1:n.3120T>C | ||
| XR_932838.1:n.3120T>C | ||
| NM_001351800.1:c.2542T>C | NP_001338729.1:p.Phe848Leu | |
| NR_147784.1:n.2746T>C | ||
| XM_011522479.2:c.2851T>C | XP_011520781.1:p.Phe951Leu | |
| XM_011522481.3:c.2542T>C | XP_011520783.1:p.Phe848Leu | |
| XM_017023212.1:c.2716T>C | XP_016878701.1:p.Phe906Leu | |
| XM_017023214.1:c.2884T>C | XP_016878703.1:p.Phe962Leu | |
| XM_024450261.1:c.2920T>C | XP_024306029.1:p.Phe974Leu | |
| XR_932836.2:n.3065T>C | ||
| XR_932837.3:n.3065T>C | ||
| XR_932838.3:n.3065T>C | ||
| NM_001171.6:c.2884T>C MANE Select | NP_001162.5:p.Phe962Leu |