Linked Data
ClinVar Variation Id:
386905
ClinVar RCV Id:
RCV002521824
dbSNP Id:
rs749990136
ExAC:
15:48797205 C / T
gnomAD v2:
15-48797205-C-T
gnomAD v4:
15-48505008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48505008C>T , CM000677.2:g.48505008C>T | GRCh38 |
| NC_000015.9:g.48797205C>T , CM000677.1:g.48797205C>T | GRCh37 |
| NC_000015.8:g.46584497C>T | NCBI36 |
| NG_008805.2:g.145781G>A , LRG_778:g.145781G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.1960+17G>A | ENSP00000453958.2:n.1960+17G>A | |
| ENST00000674301.2:c.1960+17G>A | ENSP00000501333.2:n.1960+17G>A | |
| ENST00000684448.1:n.634+17G>A | ||
| ENST00000316623.10:c.1960+17G>A MANE Select | ENSP00000325527.5:n.1960+17G>A | |
| ENST00000316623.9:c.1960+17G>A | ENSP00000325527.5:n.1960+17G>A | |
| ENST00000537463.6:c.637-30358G>A | ENSP00000440294.2:n.637-30358G>A | |
| NM_000138.4:c.1960+17G>A , LRG_778t1:c.1960+17G>A | NP_000129.3:n.1960+17G>A | |
| NM_000138.5:c.1960+17G>A MANE Select | NP_000129.3:n.1960+17G>A |