Linked Data
ClinVar Variation Id:
322564
dbSNP Id:
rs886052794
gnomAD v2:
17-29422244-C-T
gnomAD v3:
17-31095226-C-T
gnomAD v4:
17-31095226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31095226C>T , CM000679.2:g.31095226C>T | GRCh38 |
| NC_000017.10:g.29422244C>T , CM000679.1:g.29422244C>T | GRCh37 |
| NC_000017.9:g.26446370C>T | NCBI36 |
| NG_009018.1:g.5250C>T , LRG_214:g.5250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.-84C>T | ENSP00000512431.1:n.-84C>T | |
| ENST00000691014.1:c.-84C>T | ENSP00000510595.1:n.-84C>T | |
| ENST00000358273.9:c.-84C>T MANE Select | ENSP00000351015.4:n.-84C>T | |
| ENST00000356175.7:c.-84C>T | ENSP00000348498.3:n.-84C>T | |
| ENST00000358273.8:c.-84C>T | ENSP00000351015.4:n.-84C>T | |
| ENST00000431387.8:c.-84C>T | ENSP00000412921.4:n.-84C>T | |
| ENST00000487476.5:n.300C>T | ||
| ENST00000579081.5:c.19C>T | ENSP00000462408.1:p.Pro7Ser | |
| NM_000267.3:c.-84C>T , LRG_214t1:c.-84C>T | NP_000258.1:n.-84C>T | |
| NM_001042492.2:c.-84C>T , LRG_214t2:c.-84C>T | NP_001035957.1:n.-84C>T | |
| NM_001128147.2:c.-84C>T | NP_001121619.1:n.-84C>T | |
| XM_005257983.1:c.-84C>T | XP_005258040.1:n.-84C>T | |
| XM_005257984.1:c.-84C>T | XP_005258041.1:n.-84C>T | |
| XM_006721922.1:c.-84C>T | XP_006721985.1:n.-84C>T | |
| XM_006721923.2:c.21+23177C>T | XP_006721986.1:n.21+23177C>T | |
| XM_006721924.1:c.-84C>T | XP_006721987.1:n.-84C>T | |
| XM_006721925.1:c.-84C>T | XP_006721988.1:n.-84C>T | |
| XM_006721926.2:c.-84C>T | XP_006721989.1:n.-84C>T | |
| XM_006721927.1:c.-84C>T | XP_006721990.1:n.-84C>T | |
| XM_006721928.2:c.-84C>T | XP_006721991.1:n.-84C>T | |
| XM_011524852.1:c.-84C>T | XP_011523154.1:n.-84C>T | |
| XM_011524853.1:c.21+23177C>T | XP_011523155.1:n.21+23177C>T | |
| XM_011524854.1:c.21+23177C>T | XP_011523156.1:n.21+23177C>T | |
| XM_011524855.1:c.21+23177C>T | XP_011523157.1:n.21+23177C>T | |
| XM_011524856.1:c.21+23177C>T | XP_011523158.1:n.21+23177C>T | |
| XM_011524857.1:c.-84C>T | XP_011523159.1:n.-84C>T | |
| NM_001042492.3:c.-84C>T MANE Select | NP_001035957.1:n.-84C>T | |
| NM_001128147.3:c.-84C>T | NP_001121619.1:n.-84C>T |