Linked Data
ClinVar Variation Id:
552403
ClinVar RCV Id:
RCV000667652
dbSNP Id:
rs1318999121
gnomAD v2:
11-118900081-G-A
gnomAD v4:
11-119029371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029371G>A , CM000673.2:g.119029371G>A | GRCh38 |
| NC_000011.9:g.118900081G>A , CM000673.1:g.118900081G>A | GRCh37 |
| NC_000011.8:g.118405291G>A | NCBI36 |
| NG_013331.1:g.6536C>T , LRG_187:g.6536C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.228C>T | ||
| ENST00000697846.1:n.228C>T | ||
| ENST00000697847.1:n.228C>T | ||
| ENST00000697848.1:n.228C>T | ||
| ENST00000697849.1:n.472C>T | ||
| ENST00000697850.1:n.228C>T | ||
| ENST00000697851.1:n.472C>T | ||
| ENST00000638186.1:n.302C>T | ||
| ENST00000638360.1:n.236C>T | ||
| ENST00000638925.1:n.235C>T | ||
| ENST00000650539.1:n.404C>T | ||
| ENST00000330775.9:c.-2C>T | ENSP00000476242.2:n.-2C>T | |
| ENST00000357590.9:c.-2C>T | ENSP00000476176.2:n.-2C>T | |
| ENST00000525039.5:n.422C>T | ||
| ENST00000525102.5:n.756C>T | ||
| ENST00000525787.1:n.294C>T | ||
| ENST00000526626.6:n.194C>T | ||
| ENST00000527992.5:n.226C>T | ||
| ENST00000529510.5:n.17C>T | ||
| ENST00000530407.5:n.197+21C>T | ||
| ENST00000532085.1:n.1493C>T | ||
| ENST00000532888.6:n.194C>T | ||
| ENST00000534384.1:n.219C>T | ||
| ENST00000538950.5:c.-172+21C>T | ENSP00000475991.2:n.-172+21C>T | |
| ENST00000545985.5:c.-2C>T | ENSP00000475241.2:n.-2C>T | |
| NM_001164277.1:c.-2C>T , LRG_187t1:c.-2C>T | NP_001157749.1:n.-2C>T | |
| NM_001164278.1:c.-2C>T | NP_001157750.1:n.-2C>T | |
| NM_001164279.1:c.-172+21C>T | NP_001157751.1:n.-172+21C>T | |
| NM_001164280.1:c.-2C>T | NP_001157752.1:n.-2C>T | |
| NM_001467.5:c.-2C>T | NP_001458.1:n.-2C>T | |
| NM_001164278.2:c.-2C>T | NP_001157750.1:n.-2C>T | |
| NM_001164279.2:c.-172+21C>T | NP_001157751.1:n.-172+21C>T | |
| NM_001164280.2:c.-2C>T | NP_001157752.1:n.-2C>T | |
| NM_001467.6:c.-2C>T | NP_001458.1:n.-2C>T | |
| NM_001164277.2:c.-2C>T MANE Select | NP_001157749.1:n.-2C>T |