Linked Data
ClinVar Variation Id:
137300
ClinVar RCV Id:
RCV000124992
RCV000268782
RCV000264869
RCV000300292
RCV000328495
RCV000324750
RCV000359548
RCV000360793
dbSNP Id:
rs560004254
gnomAD v2:
15-48937142-T-A
gnomAD v3:
15-48644945-T-A
gnomAD v4:
15-48644945-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644945T>A , CM000677.2:g.48644945T>A | GRCh38 |
| NC_000015.9:g.48937142T>A , CM000677.1:g.48937142T>A | GRCh37 |
| NC_000015.8:g.46724434T>A | NCBI36 |
| NG_008805.2:g.5844A>T , LRG_778:g.5844A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.-176A>T | ENSP00000453958.2:n.-176A>T | |
| ENST00000674301.2:c.-176A>T | ENSP00000501333.2:n.-176A>T | |
| ENST00000316623.10:c.-176A>T MANE Select | ENSP00000325527.5:n.-176A>T | |
| ENST00000316623.9:c.-176A>T | ENSP00000325527.5:n.-176A>T | |
| ENST00000537463.6:c.-176A>T | ENSP00000440294.2:n.-176A>T | |
| ENST00000560355.1:c.-176A>T | ENSP00000453901.1:n.-176A>T | |
| NM_000138.4:c.-176A>T , LRG_778t1:c.-176A>T | NP_000129.3:n.-176A>T | |
| NM_000138.5:c.-176A>T MANE Select | NP_000129.3:n.-176A>T |