Linked Data
ClinVar Variation Id:
496753
ClinVar RCV Id:
RCV000598920
dbSNP Id:
rs1555497680
gnomAD v4:
16-58002647-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58002647T>G , CM000678.2:g.58002647T>G | GRCh38 |
| NC_000016.9:g.58036551T>G , CM000678.1:g.58036551T>G | GRCh37 |
| NC_000016.8:g.56594052T>G | NCBI36 |
| NG_027698.1:g.6275T>G , LRG_352:g.6275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423271.8:c.265+2T>G | ENSP00000409792.3:n.265+2T>G | |
| ENST00000561568.6:c.226+2T>G | ENSP00000457322.2:n.226+2T>G | |
| ENST00000563149.2:c.265+2T>G | ENSP00000454692.1:n.265+2T>G | |
| ENST00000565662.6:c.265+2T>G | ENSP00000513729.1:n.265+2T>G | |
| ENST00000698444.1:c.112+2T>G | ENSP00000513726.1:n.112+2T>G | |
| ENST00000698445.1:c.265+2T>G | ENSP00000513727.1:n.265+2T>G | |
| ENST00000698446.1:c.267T>G | ENSP00000513728.1:p.Cys89Trp | |
| ENST00000698447.1:c.265+2T>G | ENSP00000513732.1:n.265+2T>G | |
| ENST00000698510.1:c.265+2T>G | ENSP00000513760.1:n.265+2T>G | |
| ENST00000219281.8:c.265+2T>G MANE Select | ENSP00000219281.3:n.265+2T>G | |
| ENST00000219281.7:c.265+2T>G | ENSP00000219281.3:n.265+2T>G | |
| ENST00000423271.7:c.265+2T>G | ENSP00000409792.3:n.265+2T>G | |
| ENST00000539737.6:c.265+2T>G | ENSP00000446143.2:n.265+2T>G | |
| ENST00000561568.5:c.226+2T>G | ENSP00000457322.1:n.226+2T>G | |
| ENST00000561743.5:c.112+2T>G | ENSP00000454928.1:n.112+2T>G | |
| ENST00000562534.5:n.217+2T>G | ||
| ENST00000563149.1:c.265+2T>G | ENSP00000454692.1:n.265+2T>G | |
| ENST00000563207.1:n.325+2T>G | ||
| ENST00000564387.5:c.210+57T>G | ENSP00000457302.1:n.210+57T>G | |
| ENST00000565662.5:n.342+2T>G | ||
| ENST00000566292.5:n.333+2T>G | ||
| ENST00000568848.5:n.330+2T>G | ||
| ENST00000569252.5:n.335T>G | ||
| NM_001195302.1:c.265+2T>G | NP_001182231.1:n.265+2T>G | |
| NM_001204911.1:c.265+2T>G | NP_001191840.1:n.265+2T>G | |
| NM_024598.3:c.265+2T>G , LRG_352t1:c.265+2T>G | NP_078874.2:n.265+2T>G | |
| XM_005256144.3:c.112+2T>G | XP_005256201.1:n.112+2T>G | |
| XM_011523328.1:c.226+2T>G | XP_011521630.1:n.226+2T>G | |
| XM_011523329.1:c.112+2T>G | XP_011521631.1:n.112+2T>G | |
| XM_011523330.1:c.265+2T>G | XP_011521632.1:n.265+2T>G | |
| XR_933427.1:n.342+2T>G | ||
| XR_933428.1:n.342+2T>G | ||
| NM_001330568.1:c.112+2T>G | NP_001317497.1:n.112+2T>G | |
| NM_001330569.1:c.265+2T>G | NP_001317498.1:n.265+2T>G | |
| NM_001195302.2:c.265+2T>G | NP_001182231.1:n.265+2T>G | |
| NM_001204911.2:c.265+2T>G | NP_001191840.1:n.265+2T>G | |
| NM_001330568.2:c.112+2T>G | NP_001317497.1:n.112+2T>G | |
| NM_001330569.2:c.265+2T>G | NP_001317498.1:n.265+2T>G | |
| NM_024598.4:c.265+2T>G MANE Select | NP_078874.2:n.265+2T>G |