Linked Data
dbSNP Id:
rs1231243769
gnomAD v2:
15-22969260-A-G
gnomAD v3:
15-22903808-T-C
gnomAD v4:
15-22903808-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903808T>C , CM000677.2:g.22903808T>C | GRCh38 |
| NC_000015.9:g.22969260A>G , CM000677.1:g.22969260A>G | GRCh37 |
| NC_000015.8:g.20520701A>G | NCBI36 |
| NG_054889.1:g.82099A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2480A>G | ENSP00000479802.2:p.Asn827Ser | |
| ENST00000617928.5:c.2486A>G MANE Select | ENSP00000481038.1:p.Asn829Ser | |
| ENST00000610365.4:c.2486A>G | ENSP00000478779.1:p.Asn829Ser | |
| ENST00000617556.4:c.1193A>G | ENSP00000480525.1:p.Asn398Ser | |
| ENST00000617928.4:c.2486A>G | ENSP00000481038.1:p.Asn829Ser | |
| ENST00000619290.4:n.879A>G | ||
| ENST00000619348.4:n.1633A>G | ||
| NM_001033028.1:c.1193A>G | NP_001028200.1:p.Asn398Ser | |
| NM_001287810.1:c.2486A>G | NP_001274739.1:p.Asn829Ser | |
| NM_014608.3:c.2486A>G | NP_055423.1:p.Asn829Ser | |
| XM_011543873.1:c.2885A>G | XP_011542175.1:p.Asn962Ser | |
| XM_011543874.1:c.2885A>G | XP_011542176.1:p.Asn962Ser | |
| XM_011543875.1:c.2885A>G | XP_011542177.1:p.Asn962Ser | |
| XM_011543876.1:c.2480A>G | XP_011542178.1:p.Asn827Ser | |
| NM_001033028.2:c.1193A>G | NP_001028200.1:p.Asn398Ser | |
| NM_001287810.3:c.2486A>G | NP_001274739.1:p.Asn829Ser | |
| NM_001324119.2:c.2588A>G | NP_001311048.1:p.Asn863Ser | |
| NM_001324120.2:c.2486A>G | NP_001311049.1:p.Asn829Ser | |
| NM_001324122.2:c.806A>G | NP_001311051.1:p.Asn269Ser | |
| NM_001324123.2:c.2486A>G | NP_001311052.1:p.Asn829Ser | |
| NM_001324124.2:c.2396A>G | NP_001311053.1:p.Asn799Ser | |
| NM_001324125.2:c.2120A>G | NP_001311054.1:p.Asn707Ser | |
| NM_001324126.2:c.2384A>G | NP_001311055.1:p.Asn795Ser | |
| NM_014608.5:c.2486A>G | NP_055423.1:p.Asn829Ser | |
| XM_011543873.3:c.2885A>G | XP_011542175.1:p.Asn962Ser | |
| XM_011543874.2:c.2885A>G | XP_011542176.1:p.Asn962Ser | |
| XM_011543876.3:c.2582A>G | XP_011542178.2:p.Asn861Ser | |
| XM_017022023.2:c.2987A>G | XP_016877512.1:p.Asn996Ser | |
| XM_017022024.2:c.2885A>G | XP_016877513.1:p.Asn962Ser | |
| XM_024449876.1:c.2885A>G | XP_024305644.1:p.Asn962Ser | |
| XM_024449877.1:c.2486A>G | XP_024305645.1:p.Asn829Ser | |
| NM_014608.6:c.2486A>G MANE Select | NP_055423.1:p.Asn829Ser | |
| NM_001287810.4:c.2486A>G | NP_001274739.1:p.Asn829Ser | |
| NM_001324122.3:c.806A>G | NP_001311051.1:p.Asn269Ser | |
| NM_001324123.3:c.2486A>G | NP_001311052.1:p.Asn829Ser | |
| NM_001324124.3:c.2396A>G | NP_001311053.1:p.Asn799Ser | |
| NM_001324125.3:c.2120A>G | NP_001311054.1:p.Asn707Ser | |
| NM_001324126.3:c.2384A>G | NP_001311055.1:p.Asn795Ser | |
| NM_001033028.3:c.1193A>G | NP_001028200.1:p.Asn398Ser |