Linked Data
dbSNP Id:
rs898076489
gnomAD v2:
16-88709700-C-T
gnomAD v3:
16-88643292-C-T
gnomAD v4:
16-88643292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88643292C>T , CM000678.2:g.88643292C>T | GRCh38 |
| NC_000016.9:g.88709700C>T , CM000678.1:g.88709700C>T | GRCh37 |
| NC_000016.8:g.87237201C>T | NCBI36 |
| NG_007291.1:g.12758G>A , LRG_52:g.12758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696156.1:c.*61G>A | ENSP00000512446.1:n.*61G>A | |
| ENST00000696157.1:c.*866G>A | ENSP00000512447.1:n.*866G>A | |
| ENST00000696158.1:c.*903G>A | ENSP00000512448.1:n.*903G>A | |
| ENST00000696159.1:c.*572G>A | ENSP00000512449.1:n.*572G>A | |
| ENST00000696160.1:c.*61G>A | ENSP00000512450.1:n.*61G>A | |
| ENST00000696161.1:c.*14G>A | ENSP00000512451.1:n.*14G>A | |
| ENST00000696162.1:c.*1368G>A | ENSP00000512452.1:n.*1368G>A | |
| ENST00000696163.1:c.*61G>A | ENSP00000512453.1:n.*61G>A | |
| ENST00000261623.8:c.*61G>A MANE Select | ENSP00000261623.3:n.*61G>A | |
| ENST00000261623.7:c.*61G>A | ENSP00000261623.3:n.*61G>A | |
| NM_000101.3:c.*61G>A | NP_000092.2:n.*61G>A | |
| NM_000101.4:c.*61G>A MANE Select | NP_000092.2:n.*61G>A |