Linked Data
ClinVar Variation Id:
837530
ClinVar RCV Id:
RCV001038888
dbSNP Id:
rs1457138817
gnomAD v2:
16-2546517-A-G
gnomAD v4:
16-2496516-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2496516A>G , CM000678.2:g.2496516A>G | GRCh38 |
| NC_000016.9:g.2546517A>G , CM000678.1:g.2546517A>G | GRCh37 |
| NC_000016.8:g.2486518A>G | NCBI36 |
| NG_028170.1:g.26371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562105.2:c.368A>G | ENSP00000457896.2:p.Asn123Ser | |
| ENST00000567020.6:c.368A>G | ENSP00000454408.1:p.Asn123Ser | |
| ENST00000569874.2:c.368A>G | ENSP00000455005.2:p.Asn123Ser | |
| ENST00000643767.1:c.368A>G | ENSP00000494145.1:p.Asn123Ser | |
| ENST00000646147.1:c.368A>G MANE Select | ENSP00000494678.1:p.Asn123Ser | |
| ENST00000293970.9:c.368A>G | ENSP00000293970.5:p.Asn123Ser | |
| ENST00000564543.1:c.368A>G | ENSP00000455547.1:p.Asn123Ser | |
| ENST00000567020.5:c.368A>G | ENSP00000454408.1:p.Asn123Ser | |
| ENST00000627285.1:c.368A>G | ENSP00000486121.1:p.Asn123Ser | |
| ENST00000630263.2:c.368A>G | ENSP00000486835.1:p.Asn123Ser | |
| NM_001199107.1:c.368A>G | NP_001186036.1:p.Asn123Ser | |
| NM_020705.2:c.368A>G | NP_065756.1:p.Asn123Ser | |
| XM_017023493.1:c.368A>G | XP_016878982.1:p.Asn123Ser | |
| XM_017023494.1:c.368A>G | XP_016878983.1:p.Asn123Ser | |
| XM_017023495.1:c.368A>G | XP_016878984.1:p.Asn123Ser | |
| XR_001751956.1:n.550A>G | ||
| NM_001199107.2:c.368A>G MANE Select | NP_001186036.1:p.Asn123Ser | |
| NM_020705.3:c.368A>G | NP_065756.1:p.Asn123Ser |