Linked Data
ClinVar Variation Id:
291794
ClinVar RCV Id:
RCV000369219
dbSNP Id:
rs201703577
ExAC:
1:11103091 G / A
gnomAD v2:
1-11103091-G-A
gnomAD v3:
1-11043034-G-A
gnomAD v4:
1-11043034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11043034G>A , CM000663.2:g.11043034G>A | GRCh38 |
| NC_000001.10:g.11103091G>A , CM000663.1:g.11103091G>A | GRCh37 |
| NC_000001.9:g.11025678G>A | NCBI36 |
| NG_007289.1:g.9195C>T | |
| NG_007289.2:g.9195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699958.1:c.742-112C>T | ENSP00000514717.1:n.742-112C>T | |
| ENST00000700088.1:c.742-12C>T | ENSP00000514787.1:n.742-12C>T | |
| ENST00000700089.1:c.742-12C>T | ENSP00000514788.1:n.742-12C>T | |
| ENST00000700090.1:c.545-12C>T | ENSP00000514789.1:n.545-12C>T | |
| ENST00000700091.1:c.742-12C>T | ENSP00000514790.1:n.742-12C>T | |
| ENST00000700092.1:c.742-12C>T | ENSP00000514791.1:n.742-12C>T | |
| ENST00000700093.1:c.742-112C>T | ENSP00000514792.1:n.742-112C>T | |
| ENST00000700094.1:c.742-12C>T | ENSP00000514793.1:n.742-12C>T | |
| ENST00000700095.1:c.742-12C>T | ENSP00000514794.1:n.742-12C>T | |
| ENST00000700096.1:c.545-12C>T | ENSP00000514795.1:n.545-12C>T | |
| ENST00000700097.1:c.742-12C>T | ENSP00000514796.1:n.742-12C>T | |
| ENST00000700098.1:n.288-112C>T | ||
| ENST00000400897.8:c.742-12C>T MANE Select | ENSP00000383690.3:n.742-12C>T | |
| ENST00000400897.7:c.742-12C>T | ENSP00000383690.3:n.742-12C>T | |
| ENST00000478645.1:n.165C>T | ||
| NM_006610.3:c.742-12C>T | NP_006601.2:n.742-12C>T | |
| XM_017000097.1:c.742-12C>T | XP_016855586.1:n.742-12C>T | |
| XR_001736931.1:n.774-12C>T | ||
| XR_001736932.1:n.577-12C>T | ||
| XR_002958895.1:n.577-12C>T | ||
| NM_006610.4:c.742-12C>T MANE Select | NP_006601.2:n.742-12C>T |