Linked Data
ClinVar Variation Id:
127896
ClinVar RCV Id:
RCV000115822
RCV000233793
RCV000709427
RCV000656967
RCV001354391
RCV001818279
RCV003149804
RCV003492497
dbSNP Id:
rs145309168
ExAC:
17:33428027 A / T
gnomAD v2:
17-33428027-A-T
gnomAD v3:
17-35101008-A-T
gnomAD v4:
17-35101008-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101008A>T , CM000679.2:g.35101008A>T | GRCh38 |
| NC_000017.10:g.33428027A>T , CM000679.1:g.33428027A>T | GRCh37 |
| NC_000017.9:g.30452140A>T | NCBI36 |
| NG_031858.1:g.23862T>A , LRG_516:g.23862T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.797T>A | ENSP00000468273.3:p.Ile266Asn | |
| ENST00000587405.6:c.575T>A | ENSP00000466478.2:p.Ile192Asn | |
| ENST00000590016.6:c.992T>A | ENSP00000466399.1:p.Ile331Asn | |
| ENST00000592577.6:c.575T>A | ENSP00000466839.2:p.Ile192Asn | |
| ENST00000345365.11:c.932T>A MANE Select | ENSP00000338790.6:p.Ile311Asn | |
| ENST00000335858.11:c.596T>A | ENSP00000338408.6:p.Ile199Asn | |
| ENST00000345365.10:c.932T>A | ENSP00000338790.6:p.Ile311Asn | |
| ENST00000394589.8:c.932T>A | ENSP00000378090.4:p.Ile311Asn | |
| ENST00000460118.6:c.401T>A | ENSP00000464356.2:p.Ile134Asn | |
| ENST00000586044.5:c.*663T>A | ENSP00000465584.1:n.*663T>A | |
| ENST00000586210.5:c.*526T>A | ENSP00000465612.1:n.*526T>A | |
| ENST00000587977.5:c.*672T>A | ENSP00000466587.1:n.*672T>A | |
| ENST00000588372.5:c.*415T>A | ENSP00000468764.1:n.*415T>A | |
| ENST00000588594.5:c.*528T>A | ENSP00000465366.1:n.*528T>A | |
| ENST00000590016.5:c.992T>A | ENSP00000466399.1:p.Ile331Asn | |
| ENST00000591723.5:c.372+193T>A | ENSP00000467986.1:n.372+193T>A | |
| ENST00000592181.1:c.546+193T>A | ENSP00000464799.1:n.546+193T>A | |
| ENST00000593039.5:c.426+193T>A | ENSP00000466834.1:n.426+193T>A | |
| NM_001142571.1:c.992T>A | NP_001136043.1:p.Ile331Asn | |
| NM_002878.3:c.932T>A , LRG_516t1:c.932T>A | NP_002869.3:p.Ile311Asn | |
| NM_133629.2:c.596T>A | NP_598332.1:p.Ile199Asn | |
| NR_037711.1:n.1069T>A | ||
| NR_037712.1:n.934T>A | ||
| NR_037714.1:n.655+193T>A | ||
| NM_001142571.2:c.992T>A | NP_001136043.1:p.Ile331Asn | |
| NM_133629.3:c.596T>A | NP_598332.1:p.Ile199Asn | |
| NR_037711.2:n.958T>A | ||
| NR_037712.2:n.823T>A | ||
| NM_002878.4:c.932T>A MANE Select | NP_002869.3:p.Ile311Asn |