Linked Data
ClinVar Variation Id:
141578
ClinVar RCV Id:
RCV000130161
RCV000225779
RCV000238834
RCV001030594
RCV001284344
RCV001798441
RCV003952682
dbSNP Id:
rs56026142
ExAC:
17:33445587 C / T
gnomAD v2:
17-33445587-C-T
gnomAD v3:
17-35118568-C-T
gnomAD v4:
17-35118568-C-T
PubMed:
PMID:26689913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35118568C>T , CM000679.2:g.35118568C>T | GRCh38 |
| NC_000017.10:g.33445587C>T , CM000679.1:g.33445587C>T | GRCh37 |
| NC_000017.9:g.30469700C>T | NCBI36 |
| NG_031858.1:g.6302G>A , LRG_516:g.6302G>A | |
| NG_054719.1:g.1990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.196G>A | ENSP00000468273.3:p.Val66Met | |
| ENST00000587405.6:c.-95+2723G>A | ENSP00000466478.2:n.-95+2723G>A | |
| ENST00000590016.6:c.144+543G>A | ENSP00000466399.1:n.144+543G>A | |
| ENST00000590631.2:n.436+543G>A | ||
| ENST00000592577.6:c.-162G>A | ENSP00000466839.2:n.-162G>A | |
| ENST00000345365.11:c.196G>A MANE Select | ENSP00000338790.6:p.Val66Met | |
| ENST00000335858.11:c.144+543G>A | ENSP00000338408.6:n.144+543G>A | |
| ENST00000345365.10:c.196G>A | ENSP00000338790.6:p.Val66Met | |
| ENST00000394589.8:c.196G>A | ENSP00000378090.4:p.Val66Met | |
| ENST00000415064.6:n.346G>A | ||
| ENST00000460118.6:c.-208+543G>A | ENSP00000464356.2:n.-208+543G>A | |
| ENST00000585343.5:c.99G>A | ||
| ENST00000585947.5:n.159+2723G>A | ||
| ENST00000585982.5:n.239+543G>A | ||
| ENST00000586044.5:c.144+543G>A | ENSP00000465584.1:n.144+543G>A | |
| ENST00000586186.2:c.99G>A | ||
| ENST00000586210.5:c.196G>A | ENSP00000465612.1:p.Val66Met | |
| ENST00000587405.5:c.-95+2723G>A | ENSP00000466478.1:n.-95+2723G>A | |
| ENST00000587977.5:c.196G>A | ENSP00000466587.1:p.Val66Met | |
| ENST00000587982.5:n.191+2723G>A | ||
| ENST00000588372.5:c.-95+2723G>A | ENSP00000468764.1:n.-95+2723G>A | |
| ENST00000588594.5:c.144+543G>A | ENSP00000465366.1:n.144+543G>A | |
| ENST00000589506.1:n.355+543G>A | ||
| ENST00000590016.5:c.144+543G>A | ENSP00000466399.1:n.144+543G>A | |
| ENST00000590631.1:c.-52+543G>A | ENSP00000465033.1:n.-52+543G>A | |
| ENST00000591723.5:c.-134+2723G>A | ENSP00000467986.1:n.-134+2723G>A | |
| ENST00000592181.1:c.-95+543G>A | ENSP00000464799.1:n.-95+543G>A | |
| ENST00000592430.5:n.232+2723G>A | ||
| ENST00000592577.5:c.202G>A | ENSP00000466839.1:p.Val68Met | |
| ENST00000592850.5:c.99G>A | ||
| ENST00000592928.2:n.99G>A | ||
| ENST00000593039.5:c.3+2723G>A | ENSP00000466834.1:n.3+2723G>A | |
| NM_001142571.1:c.144+543G>A | NP_001136043.1:n.144+543G>A | |
| NM_002878.3:c.196G>A , LRG_516t1:c.196G>A | NP_002869.3:p.Val66Met | |
| NM_133629.2:c.144+543G>A | NP_598332.1:n.144+543G>A | |
| NR_037711.1:n.400+543G>A | ||
| NR_037712.1:n.400+543G>A | ||
| NR_037714.1:n.232+2723G>A | ||
| NM_001142571.2:c.144+543G>A | NP_001136043.1:n.144+543G>A | |
| NM_133629.3:c.144+543G>A | NP_598332.1:n.144+543G>A | |
| NR_037711.2:n.289+543G>A | ||
| NR_037712.2:n.289+543G>A | ||
| NM_002878.4:c.196G>A MANE Select | NP_002869.3:p.Val66Met |