Linked Data
ClinVar Variation Id:
363206
ClinVar RCV Id:
RCV000289770
dbSNP Id:
rs559247482
gnomAD v2:
8-48873515-C-T
gnomAD v3:
8-47960955-C-T
gnomAD v4:
8-47960955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960955C>T , CM000670.2:g.47960955C>T | GRCh38 |
| NC_000008.10:g.48873515C>T , CM000670.1:g.48873515C>T | GRCh37 |
| NC_000008.9:g.49036068C>T | NCBI36 |
| NG_023435.1:g.4229G>A , LRG_162:g.4229G>A | |
| NG_032967.1:g.5753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697120.1:n.22C>T | ||
| ENST00000697121.1:n.15C>T | ||
| ENST00000648407.1:c.-74C>T | ENSP00000497881.1:n.-74C>T | |
| ENST00000648519.1:c.-74C>T | ENSP00000497176.1:n.-74C>T | |
| ENST00000649838.1:c.-74C>T | ENSP00000497648.1:n.-74C>T | |
| ENST00000649919.1:c.-140C>T | ENSP00000498202.1:n.-140C>T | |
| ENST00000649973.1:c.-74C>T MANE Select | ENSP00000496964.1:n.-74C>T | |
| ENST00000262105.6:c.-190C>T | ENSP00000262105.2:n.-190C>T | |
| ENST00000518221.5:c.-14-176C>T | ENSP00000430329.1:n.-14-176C>T | |
| ENST00000520934.1:n.4C>T | ||
| ENST00000520994.1:n.7C>T | ||
| ENST00000523944.5:c.-74C>T | ENSP00000430194.1:n.-74C>T | |
| NM_005914.3:c.-190C>T | NP_005905.2:n.-190C>T | |
| NM_182746.2:c.-74C>T | NP_877423.1:n.-74C>T | |
| XM_005251234.1:c.-436C>T | XP_005251291.1:n.-436C>T | |
| NM_005914.4:c.-190C>T | NP_005905.2:n.-190C>T | |
| NM_182746.3:c.-74C>T MANE Select | NP_877423.1:n.-74C>T |