Linked Data
ClinVar Variation Id:
1166946
dbSNP Id:
rs1049255
ExAC:
16:88709737 C / T
gnomAD v2:
16-88709737-C-T
gnomAD v3:
16-88643329-C-T
gnomAD v4:
16-88643329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88643329C>T , CM000678.2:g.88643329C>T | GRCh38 |
| NC_000016.9:g.88709737C>T , CM000678.1:g.88709737C>T | GRCh37 |
| NC_000016.8:g.87237238C>T | NCBI36 |
| NG_007291.1:g.12721G>A , LRG_52:g.12721G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696156.1:c.*24G>A | ENSP00000512446.1:n.*24G>A | |
| ENST00000696157.1:c.*829G>A | ENSP00000512447.1:n.*829G>A | |
| ENST00000696158.1:c.*866G>A | ENSP00000512448.1:n.*866G>A | |
| ENST00000696159.1:c.*535G>A | ENSP00000512449.1:n.*535G>A | |
| ENST00000696160.1:c.*24G>A | ENSP00000512450.1:n.*24G>A | |
| ENST00000696161.1:c.742G>A | ENSP00000512451.1:p.Ala248Thr | |
| ENST00000696162.1:c.*1331G>A | ENSP00000512452.1:n.*1331G>A | |
| ENST00000696163.1:c.*24G>A | ENSP00000512453.1:n.*24G>A | |
| ENST00000261623.8:c.*24G>A MANE Select | ENSP00000261623.3:n.*24G>A | |
| ENST00000261623.7:c.*24G>A | ENSP00000261623.3:n.*24G>A | |
| NM_000101.3:c.*24G>A | NP_000092.2:n.*24G>A | |
| NM_000101.4:c.*24G>A MANE Select | NP_000092.2:n.*24G>A |