Linked Data
dbSNP Id:
rs1016176084
gnomAD v2:
17-27838118-G-T
gnomAD v3:
17-29511100-G-T
gnomAD v4:
17-29511100-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29511100G>T , CM000679.2:g.29511100G>T | GRCh38 |
| NC_000017.10:g.27838118G>T , CM000679.1:g.27838118G>T | GRCh37 |
| NC_000017.9:g.24862244G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.1704+108G>T MANE Select | ENSP00000261716.3:n.1704+108G>T | |
| ENST00000261716.7:c.1704+108G>T | ENSP00000261716.3:n.1704+108G>T | |
| ENST00000536202.1:c.1704+108G>T | ENSP00000438819.1:n.1704+108G>T | |
| ENST00000577583.1:n.1660G>T | ||
| NM_020791.2:c.1704+108G>T | NP_065842.1:n.1704+108G>T | |
| NM_025142.1:c.1704+108G>T | NP_079418.1:n.1704+108G>T | |
| XM_011525060.1:c.1704+108G>T | XP_011523362.1:n.1704+108G>T | |
| XM_011525060.2:c.1704+108G>T | XP_011523362.1:n.1704+108G>T | |
| NM_020791.4:c.1704+108G>T MANE Select | NP_065842.1:n.1704+108G>T |