Linked Data
ClinVar Variation Id:
3014587
ClinVar RCV Id:
RCV003878210
dbSNP Id:
rs1440607362
gnomAD v2:
19-4095465-G-A
gnomAD v3:
19-4095467-G-A
gnomAD v4:
19-4095467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095467G>A , CM000681.2:g.4095467G>A | GRCh38 |
| NC_000019.9:g.4095465G>A , CM000681.1:g.4095465G>A | GRCh37 |
| NC_000019.8:g.4046465G>A | NCBI36 |
| NG_007996.1:g.33662C>T , LRG_750:g.33662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1424-18C>T | ||
| ENST00000688002.1:n.3136-18C>T | ||
| ENST00000688751.1:n.121-18C>T | ||
| ENST00000689792.1:n.889-18C>T | ||
| ENST00000262948.10:c.985-18C>T MANE Select | ENSP00000262948.4:n.985-18C>T | |
| ENST00000262948.9:c.985-18C>T | ENSP00000262948.3:n.985-18C>T | |
| ENST00000394867.8:c.694-18C>T | ENSP00000378336.1:n.694-18C>T | |
| ENST00000595715.1:n.800-18C>T | ||
| ENST00000597263.5:n.170-18C>T | ||
| ENST00000599021.1:c.95-18C>T | ||
| ENST00000600584.5:n.1545-18C>T | ||
| ENST00000601786.5:n.1286-18C>T | ||
| NM_030662.3:c.985-18C>T , LRG_750t1:c.985-18C>T | NP_109587.1:n.985-18C>T | |
| XM_006722799.2:c.706-18C>T | XP_006722862.1:n.706-18C>T | |
| XM_011528133.1:c.415-18C>T | XP_011526435.1:n.415-18C>T | |
| XM_017026989.1:c.985-18C>T | XP_016882478.1:n.985-18C>T | |
| XM_017026990.1:c.706-18C>T | XP_016882479.1:n.706-18C>T | |
| NM_030662.4:c.985-18C>T MANE Select | NP_109587.1:n.985-18C>T |