Linked Data
ClinVar Variation Id:
1404
dbSNP Id:
rs137853120
ExAC:
22:37469593 C / T
gnomAD v2:
22-37469593-C-T
gnomAD v3:
22-37073553-C-T
gnomAD v4:
22-37073553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37073553C>T , CM000684.2:g.37073553C>T | GRCh38 |
| NC_000022.10:g.37469593C>T , CM000684.1:g.37469593C>T | GRCh37 |
| NC_000022.9:g.35799539C>T | NCBI36 |
| NG_012856.2:g.41011G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346753.9:c.1534G>A | ENSP00000334962.6:p.Asp512Asn | |
| ENST00000406725.6:c.1534G>A | ENSP00000385453.1:p.Asp512Asn | |
| ENST00000406856.7:c.1534G>A | ENSP00000384964.1:p.Asp512Asn | |
| ENST00000676104.1:c.1534G>A MANE Select | ENSP00000501573.1:p.Asp512Asn | |
| ENST00000346753.7:c.1561G>A | ENSP00000334962.5:p.Asp521Asn | |
| ENST00000381792.6:c.1534G>A | ENSP00000371211.2:p.Asp512Asn | |
| ENST00000406725.5:c.1534G>A | ENSP00000385453.1:p.Asp512Asn | |
| ENST00000406856.5:c.1534G>A | ENSP00000384964.1:p.Asp512Asn | |
| NM_001289000.1:c.1534G>A | NP_001275929.1:p.Asp512Asn | |
| NM_001289001.1:c.1534G>A | NP_001275930.1:p.Asp512Asn | |
| NM_153609.3:c.1561G>A | NP_705837.1:p.Asp521Asn | |
| XM_006724162.1:c.1534G>A | XP_006724225.1:p.Asp512Asn | |
| XM_006724163.2:c.1534G>A | XP_006724226.1:p.Asp512Asn | |
| XM_011529987.1:c.1534G>A | XP_011528289.1:p.Asp512Asn | |
| XM_011529988.1:c.1534G>A | XP_011528290.1:p.Asp512Asn | |
| XM_011529989.1:c.1102G>A | XP_011528291.1:p.Asp368Asn | |
| XM_011529989.2:c.1102G>A | XP_011528291.1:p.Asp368Asn | |
| XM_024452167.1:c.1534G>A | XP_024307935.1:p.Asp512Asn | |
| XM_024452168.1:c.1534G>A | XP_024307936.1:p.Asp512Asn | |
| XM_024452169.1:c.1534G>A | XP_024307937.1:p.Asp512Asn | |
| XM_024452170.1:c.1534G>A | XP_024307938.1:p.Asp512Asn | |
| XM_024452171.1:c.1534G>A | XP_024307939.1:p.Asp512Asn | |
| NM_001289000.2:c.1534G>A | NP_001275929.1:p.Asp512Asn | |
| NM_001289001.2:c.1534G>A | NP_001275930.1:p.Asp512Asn | |
| NM_001374504.1:c.1534G>A MANE Select | NP_001361433.1:p.Asp512Asn | |
| NM_153609.4:c.1534G>A | NP_705837.2:p.Asp512Asn |