Linked Data
ClinVar Variation Id:
134426
dbSNP Id:
rs200168437
ExAC:
17:17127262 C / T
gnomAD v2:
17-17127262-C-T
gnomAD v3:
17-17223948-C-T
gnomAD v4:
17-17223948-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17223948C>T , CM000679.2:g.17223948C>T | GRCh38 |
| NC_000017.10:g.17127262C>T , CM000679.1:g.17127262C>T | GRCh37 |
| NC_000017.9:g.17067987C>T | NCBI36 |
| NG_008001.2:g.18241G>A , LRG_325:g.18241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.592G>A MANE Select | ENSP00000285071.4:p.Asp198Asn | |
| ENST00000285071.8:c.592G>A | ENSP00000285071.4:p.Asp198Asn | |
| ENST00000389169.9:c.592G>A | ENSP00000373821.5:p.Asp198Asn | |
| ENST00000417064.1:c.433G>A | ENSP00000410410.1:p.Asp145Asn | |
| ENST00000427497.3:c.148+4042G>A | ENSP00000394249.3:n.148+4042G>A | |
| ENST00000480316.1:n.558G>A | ||
| NM_144606.5:c.592G>A | NP_653207.1:p.Asp198Asn | |
| NM_144997.5:c.592G>A , LRG_325t1:c.592G>A | NP_659434.2:p.Asp198Asn | |
| XM_011523714.1:c.646G>A | XP_011522016.1:p.Asp216Asn | |
| XM_011523715.1:c.646G>A | XP_011522017.1:p.Asp216Asn | |
| XM_011523716.1:c.646G>A | XP_011522018.1:p.Asp216Asn | |
| XM_011523717.1:c.646G>A | XP_011522019.1:p.Asp216Asn | |
| XM_011523718.1:c.646G>A | XP_011522020.1:p.Asp216Asn | |
| XM_011523719.1:c.646G>A | XP_011522021.1:p.Asp216Asn | |
| XM_011523720.1:c.397-1287G>A | XP_011522022.1:n.397-1287G>A | |
| XM_011523721.1:c.646G>A | XP_011522023.1:p.Asp216Asn | |
| XR_934007.1:n.1986G>A | ||
| NM_001353229.1:c.646G>A | NP_001340158.1:p.Asp216Asn | |
| NM_001353230.1:c.592G>A | NP_001340159.1:p.Asp198Asn | |
| NM_001353231.1:c.592G>A | NP_001340160.1:p.Asp198Asn | |
| NM_144606.6:c.592G>A | NP_653207.1:p.Asp198Asn | |
| NM_144997.6:c.592G>A | NP_659434.2:p.Asp198Asn | |
| XM_011523714.3:c.646G>A | XP_011522016.1:p.Asp216Asn | |
| XM_011523718.3:c.646G>A | XP_011522020.1:p.Asp216Asn | |
| XM_011523719.3:c.646G>A | XP_011522021.1:p.Asp216Asn | |
| XM_011523721.3:c.646G>A | XP_011522023.1:p.Asp216Asn | |
| XM_017024305.2:c.646G>A | XP_016879794.1:p.Asp216Asn | |
| XM_017024308.1:c.592G>A | XP_016879797.1:p.Asp198Asn | |
| XM_017024309.2:c.397-1287G>A | XP_016879798.1:n.397-1287G>A | |
| XM_024450635.1:c.646G>A | XP_024306403.1:p.Asp216Asn | |
| XR_001752445.2:n.1150G>A | ||
| NM_144997.7:c.592G>A MANE Select | NP_659434.2:p.Asp198Asn | |
| NM_001353229.2:c.646G>A | NP_001340158.1:p.Asp216Asn | |
| NM_001353230.2:c.592G>A | NP_001340159.1:p.Asp198Asn | |
| NM_001353231.2:c.592G>A | NP_001340160.1:p.Asp198Asn | |
| NM_144606.7:c.592G>A | NP_653207.1:p.Asp198Asn |