Linked Data
ClinVar Variation Id:
242932
dbSNP Id:
rs879253768
gnomAD v2:
2-27278096-G-A
gnomAD v3:
2-27055228-G-A
gnomAD v4:
2-27055228-G-A
PubMed:
PMID:26720455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27055228G>A , CM000664.2:g.27055228G>A | GRCh38 |
| NC_000002.11:g.27278096G>A , CM000664.1:g.27278096G>A | GRCh37 |
| NC_000002.10:g.27131600G>A | NCBI36 |
| NG_052914.1:g.8806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360131.5:c.883G>A MANE Select | ENSP00000353249.4:p.Asp295Asn | |
| ENST00000323064.12:c.883G>A | ENSP00000323681.8:p.Asp295Asn | |
| ENST00000360131.4:c.883G>A | ENSP00000353249.4:p.Asp295Asn | |
| ENST00000477136.5:n.1055G>A | ||
| ENST00000487078.5:c.883G>A | ENSP00000433830.1:p.Asp295Asn | |
| ENST00000489683.5:n.1042G>A | ||
| NM_001035507.2:c.883G>A | NP_001030584.1:p.Asp295Asn | |
| NM_021831.5:c.883G>A | NP_068603.4:p.Asp295Asn | |
| NR_104246.1:n.1100G>A | ||
| XM_005264477.2:c.883G>A | XP_005264534.1:p.Asp295Asn | |
| XM_006712058.1:c.883G>A | XP_006712121.1:p.Asp295Asn | |
| XM_011533011.1:c.883G>A | XP_011531313.1:p.Asp295Asn | |
| XM_011533012.1:c.883G>A | XP_011531314.1:p.Asp295Asn | |
| XM_011533013.1:c.883G>A | XP_011531315.1:p.Asp295Asn | |
| NR_138023.1:n.1061G>A | ||
| XM_005264477.3:c.883G>A | XP_005264534.1:p.Asp295Asn | |
| XM_011533011.3:c.883G>A | XP_011531313.1:p.Asp295Asn | |
| XM_011533012.2:c.883G>A | XP_011531314.1:p.Asp295Asn | |
| XM_011533013.2:c.883G>A | XP_011531315.1:p.Asp295Asn | |
| NM_021831.6:c.883G>A MANE Select | NP_068603.4:p.Asp295Asn | |
| NM_001035507.3:c.883G>A | NP_001030584.1:p.Asp295Asn | |
| NR_104246.2:n.1055G>A | ||
| NR_138023.2:n.1061G>A |