Linked Data
dbSNP Id:
rs1303408486
gnomAD v2:
7-150645627-T-C
gnomAD v3:
7-150948539-T-C
gnomAD v4:
7-150948539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948539T>C , CM000669.2:g.150948539T>C | GRCh38 |
| NC_000007.13:g.150645627T>C , CM000669.1:g.150645627T>C | GRCh37 |
| NC_000007.12:g.150276560T>C | NCBI36 |
| NG_008916.1:g.34388A>G , LRG_288:g.34388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3430A>G | ||
| ENST00000262186.10:c.2597A>G MANE Select | ENSP00000262186.5:p.Asn866Ser | |
| ENST00000330883.9:c.1577A>G | ENSP00000328531.4:p.Asn526Ser | |
| ENST00000262186.9:c.2597A>G | ENSP00000262186.5:p.Asn866Ser | |
| ENST00000330883.8:c.1577A>G | ENSP00000328531.4:p.Asn526Ser | |
| NM_000238.3:c.2597A>G , LRG_288t1:c.2597A>G | NP_000229.1:p.Asn866Ser | |
| NM_172057.2:c.1577A>G , LRG_288t3:c.1577A>G | NP_742054.1:p.Asn526Ser | |
| XM_011516185.1:c.2297A>G | XP_011514487.1:p.Asn766Ser | |
| XM_011516186.1:c.2597A>G | XP_011514488.1:p.Asn866Ser | |
| XM_011516185.2:c.2297A>G | XP_011514487.1:p.Asn766Ser | |
| XM_011516186.3:c.2597A>G | XP_011514488.1:p.Asn866Ser | |
| XM_017012195.1:c.2447A>G | XP_016867684.1:p.Asn816Ser | |
| XM_017012196.1:c.2420A>G | XP_016867685.1:p.Asn807Ser | |
| NM_000238.4:c.2597A>G MANE Select | NP_000229.1:p.Asn866Ser | |
| NM_172057.3:c.1577A>G | NP_742054.1:p.Asn526Ser |