Linked Data
ClinVar Variation Id:
323108
ClinVar RCV Id:
RCV000265129
dbSNP Id:
rs367712050
ExAC:
17:39661847 G / T
gnomAD v2:
17-39661847-G-T
gnomAD v3:
17-41505595-G-T
gnomAD v4:
17-41505595-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41505595G>T , CM000679.2:g.41505595G>T | GRCh38 |
| NC_000017.10:g.39661847G>T , CM000679.1:g.39661847G>T | GRCh37 |
| NC_000017.9:g.36915373G>T | NCBI36 |
| NG_008406.1:g.5019C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.-45C>A MANE Select | ENSP00000246635.3:n.-45C>A | |
| ENST00000246635.7:c.-45C>A | ENSP00000246635.3:n.-45C>A | |
| ENST00000336861.7:c.-45C>A | ENSP00000336604.3:n.-45C>A | |
| ENST00000464634.2:c.-45C>A | ENSP00000466525.1:n.-45C>A | |
| ENST00000468313.5:n.3C>A | ||
| ENST00000587435.1:c.-45C>A | ENSP00000467833.1:n.-45C>A | |
| ENST00000587544.5:c.-45C>A | ENSP00000468221.1:n.-45C>A | |
| ENST00000590425.1:c.-7+40C>A | ENSP00000466465.1:n.-7+40C>A | |
| NM_002274.3:c.-45C>A | NP_002265.2:n.-45C>A | |
| NM_153490.2:c.-45C>A | NP_705694.2:n.-45C>A | |
| NM_153490.3:c.-45C>A MANE Select | NP_705694.3:n.-45C>A | |
| NM_002274.4:c.-45C>A | NP_002265.3:n.-45C>A |