Linked Data
ClinVar Variation Id:
351353
ClinVar RCV Id:
RCV000366048
dbSNP Id:
rs869125609
gnomAD v3:
5-143281137-T-C
gnomAD v4:
5-143281137-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143281137T>C , CM000667.2:g.143281137T>C | GRCh38 |
| NC_000005.9:g.142660702T>C , CM000667.1:g.142660702T>C | GRCh37 |
| NC_000005.8:g.142640895T>C | NCBI36 |
| NG_009062.1:g.159376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394464.7:c.*752A>G MANE Select | ENSP00000377977.2:n.*752A>G | |
| ENST00000343796.6:c.*752A>G | ENSP00000343205.2:n.*752A>G | |
| ENST00000394464.6:c.*752A>G | ENSP00000377977.2:n.*752A>G | |
| ENST00000415690.6:c.2181+1431A>G | ENSP00000387672.2:n.2181+1431A>G | |
| ENST00000424646.6:c.*752A>G | ENSP00000405282.2:n.*752A>G | |
| ENST00000504572.5:c.*752A>G | ENSP00000422518.1:n.*752A>G | |
| NM_000176.2:c.*752A>G | NP_000167.1:n.*752A>G | |
| NM_001018074.1:c.*752A>G | NP_001018084.1:n.*752A>G | |
| NM_001018075.1:c.*752A>G | NP_001018085.1:n.*752A>G | |
| NM_001018076.1:c.*752A>G | NP_001018086.1:n.*752A>G | |
| NM_001018077.1:c.*752A>G | NP_001018087.1:n.*752A>G | |
| NM_001020825.1:c.2181+1431A>G | NP_001018661.1:n.2181+1431A>G | |
| NM_001024094.1:c.*752A>G | NP_001019265.1:n.*752A>G | |
| NM_001204258.1:c.*752A>G | NP_001191187.1:n.*752A>G | |
| NM_001204259.1:c.*752A>G | NP_001191188.1:n.*752A>G | |
| NM_001204260.1:c.*752A>G | NP_001191189.1:n.*752A>G | |
| NM_001204261.1:c.*752A>G | NP_001191190.1:n.*752A>G | |
| NM_001204262.1:c.*752A>G | NP_001191191.1:n.*752A>G | |
| NM_001204263.1:c.*752A>G | NP_001191192.1:n.*752A>G | |
| NM_001204264.1:c.*752A>G | NP_001191193.1:n.*752A>G | |
| XM_005268419.2:c.*752A>G | XP_005268476.1:n.*752A>G | |
| XM_005268420.3:c.*752A>G | XP_005268477.1:n.*752A>G | |
| XM_005268422.2:c.*752A>G | XP_005268479.1:n.*752A>G | |
| XM_005268423.2:c.*752A>G | XP_005268480.1:n.*752A>G | |
| XM_011537637.1:c.*752A>G | XP_011535939.1:n.*752A>G | |
| XR_944371.1:n.656-3562T>C | ||
| NR_157096.1:n.2009A>G | ||
| XM_005268420.4:c.*752A>G | XP_005268477.1:n.*752A>G | |
| XM_017009397.1:c.*752A>G | XP_016864886.1:n.*752A>G | |
| XM_017009398.1:c.*752A>G | XP_016864887.1:n.*752A>G | |
| NM_000176.3:c.*752A>G MANE Select | NP_000167.1:n.*752A>G | |
| NM_001364180.1:c.*752A>G | NP_001351109.1:n.*752A>G | |
| NM_001364181.1:c.*752A>G | NP_001351110.1:n.*752A>G | |
| NM_001364182.1:c.*752A>G | NP_001351111.1:n.*752A>G | |
| NM_001364183.1:c.*752A>G | NP_001351112.1:n.*752A>G | |
| NM_001364184.1:c.*752A>G | NP_001351113.1:n.*752A>G | |
| NM_001364185.1:c.*752A>G | NP_001351114.1:n.*752A>G | |
| NM_001018076.2:c.*752A>G | NP_001018086.1:n.*752A>G | |
| NM_001020825.2:c.2181+1431A>G | NP_001018661.1:n.2181+1431A>G | |
| NM_001024094.2:c.*752A>G | NP_001019265.1:n.*752A>G | |
| NM_001204258.2:c.*752A>G | NP_001191187.1:n.*752A>G | |
| NM_001204259.2:c.*752A>G | NP_001191188.1:n.*752A>G | |
| NM_001204260.2:c.*752A>G | NP_001191189.1:n.*752A>G | |
| NM_001204261.2:c.*752A>G | NP_001191190.1:n.*752A>G | |
| NM_001204262.2:c.*752A>G | NP_001191191.1:n.*752A>G | |
| NM_001204263.2:c.*752A>G | NP_001191192.1:n.*752A>G | |
| NM_001204264.2:c.*752A>G | NP_001191193.1:n.*752A>G | |
| NM_001364180.2:c.*752A>G | NP_001351109.1:n.*752A>G | |
| NM_001364181.2:c.*752A>G | NP_001351110.1:n.*752A>G | |
| NM_001364183.2:c.*752A>G | NP_001351112.1:n.*752A>G | |
| NM_001364184.2:c.*752A>G | NP_001351113.1:n.*752A>G | |
| NR_157096.2:n.2009A>G |