Linked Data
ClinVar Variation Id:
837849
ClinVar RCV Id:
RCV001039277
dbSNP Id:
rs539976549
ExAC:
17:44116028 C / T
gnomAD v2:
17-44116028-C-T
gnomAD v3:
17-46038662-C-T
gnomAD v4:
17-46038662-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46038662C>T , CM000679.2:g.46038662C>T | GRCh38 |
| NC_000017.10:g.44116028C>T , CM000679.1:g.44116028C>T | GRCh37 |
| NC_000017.9:g.41471875C>T | NCBI36 |
| NG_032784.1:g.191713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.2417G>A MANE Select | ENSP00000387393.3:p.Ser806Asn | |
| ENST00000572904.6:c.2417G>A | ENSP00000461484.1:p.Ser806Asn | |
| ENST00000573286.2:n.4100G>A | ||
| ENST00000574590.6:c.2417G>A | ENSP00000461812.2:p.Ser806Asn | |
| ENST00000575318.6:c.2228G>A | ENSP00000461299.1:p.Ser743Asn | |
| ENST00000576137.2:n.414G>A | ||
| ENST00000638275.1:c.2228G>A | ENSP00000492576.1:p.Ser743Asn | |
| ENST00000639150.1:c.1151G>A | ENSP00000491906.1:p.Ser384Asn | |
| ENST00000639467.1:c.80G>A | ENSP00000492741.1:p.Ser27Asn | |
| ENST00000639531.1:c.2228G>A | ENSP00000491765.1:p.Ser743Asn | |
| ENST00000639853.1:c.1399G>A | ||
| ENST00000640636.1:c.370G>A | ||
| ENST00000648792.1:c.2417G>A | ENSP00000497628.1:p.Ser806Asn | |
| ENST00000262419.10:c.2417G>A | ENSP00000262419.6:p.Ser806Asn | |
| ENST00000432791.5:c.2417G>A | ENSP00000387393.2:p.Ser806Asn | |
| ENST00000572218.5:n.6634G>A | ||
| ENST00000572679.1:n.549G>A | ||
| ENST00000572904.5:c.2417G>A | ENSP00000461484.1:p.Ser806Asn | |
| ENST00000573286.1:n.273G>A | ||
| ENST00000574590.5:c.2417G>A | ENSP00000461812.1:p.Ser806Asn | |
| ENST00000575318.5:c.2228G>A | ENSP00000461299.1:p.Ser743Asn | |
| ENST00000576137.1:n.56G>A | ||
| ENST00000576870.5:n.389G>A | ||
| NM_001193465.1:c.2417G>A | NP_001180394.1:p.Ser806Asn | |
| NM_001193466.1:c.2417G>A | NP_001180395.1:p.Ser806Asn | |
| NM_015443.3:c.2417G>A | NP_056258.1:p.Ser806Asn | |
| XM_006721823.1:c.2417G>A | XP_006721886.1:p.Ser806Asn | |
| XM_006721824.2:c.2417G>A | XP_006721887.1:p.Ser806Asn | |
| XM_011524628.1:c.2417G>A | XP_011522930.1:p.Ser806Asn | |
| XM_011524629.1:c.2315G>A | XP_011522931.1:p.Ser772Asn | |
| XM_011524630.1:c.2228G>A | XP_011522932.1:p.Ser743Asn | |
| XM_011524631.1:c.2228G>A | XP_011522933.1:p.Ser743Asn | |
| XM_011524632.1:c.1187G>A | XP_011522934.1:p.Ser396Asn | |
| XM_006721823.2:c.2417G>A | XP_006721886.1:p.Ser806Asn | |
| XM_006721824.4:c.2417G>A | XP_006721887.1:p.Ser806Asn | |
| XM_011524628.3:c.2417G>A | XP_011522930.1:p.Ser806Asn | |
| XM_011524629.3:c.2315G>A | XP_011522931.1:p.Ser772Asn | |
| XM_011524630.3:c.2228G>A | XP_011522932.1:p.Ser743Asn | |
| XM_011524631.3:c.2228G>A | XP_011522933.1:p.Ser743Asn | |
| XM_011524632.3:c.1187G>A | XP_011522934.1:p.Ser396Asn | |
| XM_017024488.2:c.2228G>A | XP_016879977.1:p.Ser743Asn | |
| XM_017024489.1:c.2315G>A | XP_016879978.1:p.Ser772Asn | |
| NM_001193466.2:c.2417G>A | NP_001180395.1:p.Ser806Asn | |
| NM_015443.4:c.2417G>A MANE Select | NP_056258.1:p.Ser806Asn | |
| NM_001193465.2:c.2417G>A | NP_001180394.1:p.Ser806Asn | |
| NM_001379198.1:c.2417G>A | NP_001366127.1:p.Ser806Asn |