Linked Data
ClinVar Variation Id:
100734
dbSNP Id:
rs140130028
ExAC:
14:74947404 C / T
gnomAD v2:
14-74947404-C-T
gnomAD v3:
14-74480701-C-T
gnomAD v4:
14-74480701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74480701C>T , CM000676.2:g.74480701C>T | GRCh38 |
| NC_000014.8:g.74947404C>T , CM000676.1:g.74947404C>T | GRCh37 |
| NC_000014.7:g.74017157C>T | NCBI36 |
| NG_007117.1:g.17681G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555619.6:c.441+1G>A MANE Select | ENSP00000451112.2:n.441+1G>A | |
| ENST00000238633.6:c.432+10G>A | ENSP00000238633.2:n.432+10G>A | |
| ENST00000434013.6:c.441+1G>A | ENSP00000412103.2:n.441+1G>A | |
| ENST00000541064.5:c.364-413G>A | ENSP00000442488.1:n.364-413G>A | |
| ENST00000553490.5:c.442G>A | ENSP00000451180.1:p.Val148Ile | |
| ENST00000554482.1:c.236+1G>A | ENSP00000451314.1:n.236+1G>A | |
| ENST00000555619.5:c.441+1G>A | ENSP00000451112.1:n.441+1G>A | |
| ENST00000556009.5:c.506+1G>A | ||
| ENST00000557510.5:c.442G>A | ENSP00000451206.1:p.Val148Ile | |
| NM_006432.3:c.441+1G>A | NP_006423.1:n.441+1G>A | |
| NM_001363688.1:c.442G>A | NP_001350617.1:p.Val148Ile | |
| NM_006432.4:c.441+1G>A | NP_006423.1:n.441+1G>A | |
| NM_001375440.1:c.364-413G>A | NP_001362369.1:n.364-413G>A | |
| NM_006432.5:c.441+1G>A MANE Select | NP_006423.1:n.441+1G>A |