Linked Data
ClinVar Variation Id:
127893
ClinVar RCV Id:
RCV000115819
RCV000212965
RCV000410860
RCV000586822
RCV000785237
RCV001271051
RCV002463640
RCV003313779
RCV003162542
dbSNP Id:
rs587780104
ExAC:
17:33430317 G / A
gnomAD v2:
17-33430317-G-A
gnomAD v3:
17-35103298-G-A
gnomAD v4:
17-35103298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103298G>A , CM000679.2:g.35103298G>A | GRCh38 |
| NC_000017.10:g.33430317G>A , CM000679.1:g.33430317G>A | GRCh37 |
| NC_000017.9:g.30454430G>A | NCBI36 |
| NG_031858.1:g.21572C>T , LRG_516:g.21572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.559C>T | ENSP00000468273.3:p.Arg187Ter | |
| ENST00000587405.6:c.337C>T | ENSP00000466478.2:p.Arg113Ter | |
| ENST00000590016.6:c.754C>T | ENSP00000466399.1:p.Arg252Ter | |
| ENST00000592577.6:c.337C>T | ENSP00000466839.2:p.Arg113Ter | |
| ENST00000345365.11:c.694C>T MANE Select | ENSP00000338790.6:p.Arg232Ter | |
| ENST00000335858.11:c.358C>T | ENSP00000338408.6:p.Arg120Ter | |
| ENST00000345365.10:c.694C>T | ENSP00000338790.6:p.Arg232Ter | |
| ENST00000394589.8:c.694C>T | ENSP00000378090.4:p.Arg232Ter | |
| ENST00000460118.6:c.163C>T | ENSP00000464356.2:p.Arg55Ter | |
| ENST00000586044.5:c.*425C>T | ENSP00000465584.1:n.*425C>T | |
| ENST00000586210.5:c.*288C>T | ENSP00000465612.1:n.*288C>T | |
| ENST00000587405.5:c.337C>T | ENSP00000466478.1:p.Arg113Ter | |
| ENST00000587977.5:c.*434C>T | ENSP00000466587.1:n.*434C>T | |
| ENST00000588372.5:c.*177C>T | ENSP00000468764.1:n.*177C>T | |
| ENST00000588594.5:c.*290C>T | ENSP00000465366.1:n.*290C>T | |
| ENST00000590016.5:c.754C>T | ENSP00000466399.1:p.Arg252Ter | |
| ENST00000591723.5:c.163C>T | ENSP00000467986.1:p.Arg55Ter | |
| ENST00000592181.1:c.337C>T | ENSP00000464799.1:p.Arg113Ter | |
| ENST00000592577.5:c.700C>T | ENSP00000466839.1:p.Arg234Ter | |
| ENST00000593039.5:c.217C>T | ENSP00000466834.1:p.Arg73Ter | |
| NM_001142571.1:c.754C>T | NP_001136043.1:p.Arg252Ter | |
| NM_002878.3:c.694C>T , LRG_516t1:c.694C>T | NP_002869.3:p.Arg232Ter | |
| NM_133629.2:c.358C>T | NP_598332.1:p.Arg120Ter | |
| NR_037711.1:n.831C>T | ||
| NR_037712.1:n.696C>T | ||
| NR_037714.1:n.446C>T | ||
| NM_001142571.2:c.754C>T | NP_001136043.1:p.Arg252Ter | |
| NM_133629.3:c.358C>T | NP_598332.1:p.Arg120Ter | |
| NR_037711.2:n.720C>T | ||
| NR_037712.2:n.585C>T | ||
| NM_002878.4:c.694C>T MANE Select | NP_002869.3:p.Arg232Ter |