Linked Data
dbSNP Id:
rs1299366408
gnomAD v2:
12-54367689-G-A
gnomAD v3:
12-53973905-G-A
gnomAD v4:
12-53973905-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53973905G>A , CM000674.2:g.53973905G>A | GRCh38 |
| NC_000012.11:g.54367689G>A , CM000674.1:g.54367689G>A | GRCh37 |
| NC_000012.10:g.52653956G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243082.4:c.664G>A (HOXC11) | ENSP00000243082.4:p.Ala222Thr | |
| ENST00000546378.1:c.664G>A (HOXC11) MANE Select | ENSP00000446680.1:p.Ala222Thr | |
| NM_014212.3:c.664G>A (HOXC11) | NP_055027.1:p.Ala222Thr | |
| NR_047517.1:n.59+993C>T (HOTAIR) | ||
| NM_014212.4:c.664G>A (HOXC11) MANE Select | NP_055027.1:p.Ala222Thr |