Linked Data
ClinVar Variation Id:
410557
dbSNP Id:
rs139642328
gnomAD v2:
17-33446553-G-T
gnomAD v3:
17-35119534-G-T
gnomAD v4:
17-35119534-G-T
PubMed:
PMID:27498913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35119534G>T , CM000679.2:g.35119534G>T | GRCh38 |
| NC_000017.10:g.33446553G>T , CM000679.1:g.33446553G>T | GRCh37 |
| NC_000017.9:g.30470666G>T | NCBI36 |
| NG_031858.1:g.5336C>A , LRG_516:g.5336C>A | |
| NG_054719.1:g.2956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.80C>A | ENSP00000468273.3:p.Thr27Lys | |
| ENST00000587405.6:c.-95+1757C>A | ENSP00000466478.2:n.-95+1757C>A | |
| ENST00000590016.6:c.80C>A | ENSP00000466399.1:p.Thr27Lys | |
| ENST00000590631.2:n.13C>A | ||
| ENST00000592577.6:c.-276+166C>A | ENSP00000466839.2:n.-276+166C>A | |
| ENST00000345365.11:c.80C>A MANE Select | ENSP00000338790.6:p.Thr27Lys | |
| ENST00000335858.11:c.80C>A | ENSP00000338408.6:p.Thr27Lys | |
| ENST00000345365.10:c.80C>A | ENSP00000338790.6:p.Thr27Lys | |
| ENST00000394589.8:c.80C>A | ENSP00000378090.4:p.Thr27Lys | |
| ENST00000415064.6:n.233-362C>A | ||
| ENST00000460118.6:c.-272C>A | ENSP00000464356.2:n.-272C>A | |
| ENST00000585947.5:n.159+1757C>A | ||
| ENST00000585982.5:n.178-362C>A | ||
| ENST00000586044.5:c.80C>A | ENSP00000465584.1:p.Thr27Lys | |
| ENST00000586210.5:c.80C>A | ENSP00000465612.1:p.Thr27Lys | |
| ENST00000587405.5:c.-95+1757C>A | ENSP00000466478.1:n.-95+1757C>A | |
| ENST00000587977.5:c.80C>A | ENSP00000466587.1:p.Thr27Lys | |
| ENST00000587982.5:n.191+1757C>A | ||
| ENST00000588372.5:c.-95+1757C>A | ENSP00000468764.1:n.-95+1757C>A | |
| ENST00000588594.5:c.80C>A | ENSP00000465366.1:p.Thr27Lys | |
| ENST00000589506.1:n.291C>A | ||
| ENST00000590016.5:c.80C>A | ENSP00000466399.1:p.Thr27Lys | |
| ENST00000590631.1:c.-475C>A | ENSP00000465033.1:n.-475C>A | |
| ENST00000591723.5:c.-134+1757C>A | ENSP00000467986.1:n.-134+1757C>A | |
| ENST00000592181.1:c.-156-362C>A | ENSP00000464799.1:n.-156-362C>A | |
| ENST00000592430.5:n.232+1757C>A | ||
| ENST00000592577.5:c.88+166C>A | ENSP00000466839.1:n.88+166C>A | |
| ENST00000593039.5:c.3+1757C>A | ENSP00000466834.1:n.3+1757C>A | |
| NM_001142571.1:c.80C>A | NP_001136043.1:p.Thr27Lys | |
| NM_002878.3:c.80C>A , LRG_516t1:c.80C>A | NP_002869.3:p.Thr27Lys | |
| NM_133629.2:c.80C>A | NP_598332.1:p.Thr27Lys | |
| NR_037711.1:n.336C>A | ||
| NR_037712.1:n.336C>A | ||
| NR_037714.1:n.232+1757C>A | ||
| NM_001142571.2:c.80C>A | NP_001136043.1:p.Thr27Lys | |
| NM_133629.3:c.80C>A | NP_598332.1:p.Thr27Lys | |
| NR_037711.2:n.225C>A | ||
| NR_037712.2:n.225C>A | ||
| NM_002878.4:c.80C>A MANE Select | NP_002869.3:p.Thr27Lys |