Linked Data
ClinVar Variation Id:
292700
dbSNP Id:
rs11265425
gnomAD v2:
1-154245142-T-G
gnomAD v3:
1-154272666-T-G
gnomAD v4:
1-154272666-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272666T>G , CM000663.2:g.154272666T>G | GRCh38 |
| NC_000001.10:g.154245142T>G , CM000663.1:g.154245142T>G | GRCh37 |
| NC_000001.9:g.152511766T>G | NCBI36 |
| NG_007369.1:g.5104T>G , LRG_64:g.5104T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447768.7:c.-58T>G | ENSP00000403848.2:n.-58T>G | |
| ENST00000459914.2:n.44T>G | ||
| ENST00000471326.6:n.60T>G | ||
| ENST00000477780.3:n.30T>G | ||
| ENST00000483970.7:c.-58T>G | ENSP00000435088.1:n.-58T>G | |
| ENST00000531435.6:n.113T>G | ||
| ENST00000696929.1:c.-58T>G | ENSP00000512978.1:n.-58T>G | |
| ENST00000696931.1:n.44T>G | ||
| ENST00000696932.1:c.-58T>G | ENSP00000512979.1:n.-58T>G | |
| ENST00000696933.1:c.-58T>G | ENSP00000512980.1:n.-58T>G | |
| ENST00000696938.1:c.-58T>G | ENSP00000512983.1:n.-58T>G | |
| ENST00000696941.1:c.-113T>G | ENSP00000512986.1:n.-113T>G | |
| ENST00000696945.1:c.-238T>G | ENSP00000512990.1:n.-238T>G | |
| ENST00000696965.1:c.-119T>G | ENSP00000513004.1:n.-119T>G | |
| ENST00000696966.1:c.-238T>G | ENSP00000513005.1:n.-238T>G | |
| ENST00000697592.1:c.-142T>G | ENSP00000513356.1:n.-142T>G | |
| ENST00000697830.1:c.-63T>G | ENSP00000513452.1:n.-63T>G | |
| ENST00000328703.12:c.-58T>G MANE Select | ENSP00000329002.7:n.-58T>G | |
| ENST00000328703.11:c.-58T>G | ENSP00000329002.7:n.-58T>G | |
| ENST00000447768.6:c.-58T>G | ENSP00000403848.2:n.-58T>G | |
| ENST00000457918.6:c.-58T>G | ENSP00000411448.2:n.-58T>G | |
| ENST00000477780.2:n.30T>G | ||
| ENST00000483970.6:c.-58T>G | ENSP00000435088.1:n.-58T>G | |
| ENST00000531435.5:n.38T>G | ||
| NM_001018837.1:c.-58T>G | NP_001018238.1:n.-58T>G | |
| NM_006118.3:c.-58T>G , LRG_64t1:c.-58T>G | NP_006109.2:n.-58T>G | |
| NM_001018837.2:c.-58T>G | NP_001018238.1:n.-58T>G | |
| NM_006118.4:c.-58T>G MANE Select | NP_006109.2:n.-58T>G |