Linked Data
ClinVar Variation Id:
386023
ClinVar RCV Id:
RCV000425128
dbSNP Id:
rs1039243027
gnomAD v2:
2-207630372-C-T
gnomAD v3:
2-206765648-C-T
gnomAD v4:
2-206765648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206765648C>T , CM000664.2:g.206765648C>T | GRCh38 |
| NC_000002.11:g.207630372C>T , CM000664.1:g.207630372C>T | GRCh37 |
| NC_000002.10:g.207338617C>T | NCBI36 |
| NG_008984.1:g.5261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.-150C>T MANE Select | ENSP00000385990.3:n.-150C>T | |
| ENST00000236980.10:c.-57C>T | ENSP00000236980.6:n.-57C>T | |
| ENST00000402774.7:c.-150C>T | ENSP00000385990.3:n.-150C>T | |
| ENST00000403094.3:c.-165C>T | ENSP00000384929.3:n.-165C>T | |
| ENST00000418289.1:c.-51+130C>T | ENSP00000409927.1:n.-51+130C>T | |
| ENST00000487777.5:n.2C>T | ||
| NM_001136193.1:c.-150C>T | NP_001129665.1:n.-150C>T | |
| NM_001136194.1:c.-165C>T | NP_001129666.1:n.-165C>T | |
| NM_014929.3:c.-57C>T | NP_055744.2:n.-57C>T | |
| NM_001136193.2:c.-150C>T MANE Select | NP_001129665.1:n.-150C>T | |
| NM_001136194.2:c.-165C>T | NP_001129666.1:n.-165C>T | |
| NM_014929.4:c.-57C>T | NP_055744.2:n.-57C>T |