Linked Data
ClinVar Variation Id:
292702
ClinVar RCV Id:
RCV000326888
dbSNP Id:
rs578086387
gnomAD v2:
1-154245148-G-T
gnomAD v3:
1-154272672-G-T
gnomAD v4:
1-154272672-G-T
COSMIC:
COSN20090364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272672G>T , CM000663.2:g.154272672G>T | GRCh38 |
| NC_000001.10:g.154245148G>T , CM000663.1:g.154245148G>T | GRCh37 |
| NC_000001.9:g.152511772G>T | NCBI36 |
| NG_007369.1:g.5110G>T , LRG_64:g.5110G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.-52G>T | ENSP00000394920.2:n.-52G>T | |
| ENST00000447768.7:c.-52G>T | ENSP00000403848.2:n.-52G>T | |
| ENST00000459914.2:n.50G>T | ||
| ENST00000471326.6:n.66G>T | ||
| ENST00000477780.3:n.36G>T | ||
| ENST00000483970.7:c.-52G>T | ENSP00000435088.1:n.-52G>T | |
| ENST00000531435.6:n.119G>T | ||
| ENST00000696929.1:c.-52G>T | ENSP00000512978.1:n.-52G>T | |
| ENST00000696931.1:n.50G>T | ||
| ENST00000696932.1:c.-52G>T | ENSP00000512979.1:n.-52G>T | |
| ENST00000696933.1:c.-52G>T | ENSP00000512980.1:n.-52G>T | |
| ENST00000696938.1:c.-52G>T | ENSP00000512983.1:n.-52G>T | |
| ENST00000696941.1:c.-107G>T | ENSP00000512986.1:n.-107G>T | |
| ENST00000696945.1:c.-232G>T | ENSP00000512990.1:n.-232G>T | |
| ENST00000696965.1:c.-113G>T | ENSP00000513004.1:n.-113G>T | |
| ENST00000696966.1:c.-232G>T | ENSP00000513005.1:n.-232G>T | |
| ENST00000697592.1:c.-136G>T | ENSP00000513356.1:n.-136G>T | |
| ENST00000697830.1:c.-57G>T | ENSP00000513452.1:n.-57G>T | |
| ENST00000328703.12:c.-52G>T MANE Select | ENSP00000329002.7:n.-52G>T | |
| ENST00000328703.11:c.-52G>T | ENSP00000329002.7:n.-52G>T | |
| ENST00000435087.1:c.-52G>T | ENSP00000394920.1:n.-52G>T | |
| ENST00000447768.6:c.-52G>T | ENSP00000403848.2:n.-52G>T | |
| ENST00000457918.6:c.-52G>T | ENSP00000411448.2:n.-52G>T | |
| ENST00000477780.2:n.36G>T | ||
| ENST00000483970.6:c.-52G>T | ENSP00000435088.1:n.-52G>T | |
| ENST00000531435.5:n.44G>T | ||
| ENST00000532105.1:c.-173G>T | ENSP00000433951.1:n.-173G>T | |
| NM_001018837.1:c.-52G>T | NP_001018238.1:n.-52G>T | |
| NM_006118.3:c.-52G>T , LRG_64t1:c.-52G>T | NP_006109.2:n.-52G>T | |
| NM_001018837.2:c.-52G>T | NP_001018238.1:n.-52G>T | |
| NM_006118.4:c.-52G>T MANE Select | NP_006109.2:n.-52G>T |