Linked Data
ClinVar Variation Id:
347503
dbSNP Id:
rs145392789
ExAC:
4:123664546 T / C
gnomAD v2:
4-123664546-T-C
gnomAD v3:
4-122743391-T-C
gnomAD v4:
4-122743391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122743391T>C , CM000666.2:g.122743391T>C | GRCh38 |
| NC_000004.11:g.123664546T>C , CM000666.1:g.123664546T>C | GRCh37 |
| NC_000004.10:g.123883996T>C | NCBI36 |
| NG_021203.1:g.15690T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.1499T>C MANE Select | ENSP00000319062.3:p.Val500Ala | |
| ENST00000314218.7:c.1499T>C | ENSP00000319062.3:p.Val500Ala | |
| ENST00000542236.5:c.1499T>C | ENSP00000438273.1:p.Val500Ala | |
| NM_001178007.1:c.1499T>C | NP_001171478.1:p.Val500Ala | |
| NM_152618.2:c.1499T>C | NP_689831.2:p.Val500Ala | |
| XM_011531680.1:c.1499T>C | XP_011529982.1:p.Val500Ala | |
| XM_011531680.2:c.1499T>C | XP_011529982.1:p.Val500Ala | |
| XM_017007831.1:c.1499T>C | XP_016863320.1:p.Val500Ala | |
| NM_152618.3:c.1499T>C MANE Select | NP_689831.2:p.Val500Ala | |
| NM_001178007.2:c.1499T>C | NP_001171478.1:p.Val500Ala |