Linked Data
ClinVar Variation Id:
506599
dbSNP Id:
rs554218980
ExAC:
2:166810239 G / A
gnomAD v2:
2-166810239-G-A
gnomAD v3:
2-165953729-G-A
gnomAD v4:
2-165953729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165953729G>A , CM000664.2:g.165953729G>A | GRCh38 |
| NC_000002.11:g.166810239G>A , CM000664.1:g.166810239G>A | GRCh37 |
| NC_000002.10:g.166518485G>A | NCBI36 |
| NG_030345.1:g.5110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.-24C>T MANE Select | ENSP00000243344.7:n.-24C>T | |
| ENST00000652557.1:c.-24C>T | ENSP00000498617.1:n.-24C>T | |
| ENST00000679356.1:c.-24C>T | ENSP00000506245.1:n.-24C>T | |
| ENST00000679671.1:n.90C>T | ||
| ENST00000679676.1:c.-24C>T | ENSP00000505492.1:n.-24C>T | |
| ENST00000679799.1:c.-24C>T | ENSP00000505208.1:n.-24C>T | |
| ENST00000679840.1:c.-24C>T | ENSP00000505248.1:n.-24C>T | |
| ENST00000679931.1:c.-24C>T | ENSP00000505632.1:n.-24C>T | |
| ENST00000679967.1:c.-24C>T | ENSP00000506607.1:n.-24C>T | |
| ENST00000680327.1:c.-24C>T | ENSP00000506639.1:n.-24C>T | |
| ENST00000680448.1:c.-24C>T | ENSP00000505921.1:n.-24C>T | |
| ENST00000680657.1:n.88C>T | ||
| ENST00000680690.1:c.-24C>T | ENSP00000506121.1:n.-24C>T | |
| ENST00000680888.1:c.-24C>T | ENSP00000506276.1:n.-24C>T | |
| ENST00000680947.1:c.-24C>T | ENSP00000506496.1:n.-24C>T | |
| ENST00000681024.1:c.-24C>T | ENSP00000506449.1:n.-24C>T | |
| ENST00000681083.1:c.-24C>T | ENSP00000506095.1:n.-24C>T | |
| ENST00000681483.1:c.-24C>T | ENSP00000505499.1:n.-24C>T | |
| ENST00000681502.1:c.-24C>T | ENSP00000505644.1:n.-24C>T | |
| ENST00000681606.1:c.-24C>T | ENSP00000505354.1:n.-24C>T | |
| ENST00000681819.1:c.-24C>T | ENSP00000505673.1:n.-24C>T | |
| ENST00000681952.1:c.-24C>T | ENSP00000506400.1:n.-24C>T | |
| ENST00000243344.7:c.-24C>T | ENSP00000243344.7:n.-24C>T | |
| ENST00000464374.5:n.17C>T | ||
| ENST00000476227.1:n.83C>T | ||
| NM_024753.4:c.-24C>T | NP_079029.3:n.-24C>T | |
| XM_006712761.1:c.-24C>T | XP_006712824.1:n.-24C>T | |
| XM_011511872.1:c.-24C>T | XP_011510174.1:n.-24C>T | |
| XM_011511872.2:c.-24C>T | XP_011510174.1:n.-24C>T | |
| XM_017004967.1:c.-24C>T | XP_016860456.1:n.-24C>T | |
| NM_024753.5:c.-24C>T MANE Select | NP_079029.3:n.-24C>T |