Linked Data
dbSNP Id:
rs1279635301
gnomAD v2:
5-90106715-A-G
gnomAD v3:
5-90810898-A-G
gnomAD v4:
5-90810898-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810898A>G , CM000667.2:g.90810898A>G | GRCh38 |
| NC_000005.9:g.90106715A>G , CM000667.1:g.90106715A>G | GRCh37 |
| NC_000005.8:g.90142471A>G | NCBI36 |
| NG_007083.1:g.257099A>G | |
| NG_007083.2:g.286555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15638A>G MANE Select | ENSP00000384582.2:p.Asn5213Ser | |
| ENST00000425867.3:c.4592A>G | ENSP00000392618.3:p.Asn1531Ser | |
| ENST00000638510.1:n.2905A>G | ||
| ENST00000639431.1:c.265+134689A>G | ENSP00000491057.1:n.265+134689A>G | |
| ENST00000640407.1:c.2048A>G | ENSP00000491425.1:p.Asn683Ser | |
| ENST00000405460.6:c.15638A>G | ENSP00000384582.2:p.Asn5213Ser | |
| ENST00000425867.2:c.2621A>G | ENSP00000392618.2:p.Asn874Ser | |
| NM_032119.3:c.15638A>G | NP_115495.3:p.Asn5213Ser | |
| NR_003149.1:n.15651A>G | ||
| XM_011543675.1:c.15635A>G | XP_011541977.1:p.Asn5212Ser | |
| XM_011543676.1:c.15557A>G | XP_011541978.1:p.Asn5186Ser | |
| XM_011543677.1:c.12941A>G | XP_011541979.1:p.Asn4314Ser | |
| NM_032119.4:c.15638A>G MANE Select | NP_115495.3:p.Asn5213Ser | |
| XM_017009963.2:c.15659A>G | XP_016865452.1:p.Asn5220Ser | |
| XM_017009964.2:c.15656A>G | XP_016865453.1:p.Asn5219Ser | |
| XM_017009965.1:c.15656A>G | XP_016865454.1:p.Asn5219Ser | |
| XM_017009966.2:c.15578A>G | XP_016865455.1:p.Asn5193Ser | |
| XM_017009967.1:c.15563A>G | XP_016865456.1:p.Asn5188Ser | |
| XM_017009968.2:c.15479A>G | XP_016865457.1:p.Asn5160Ser | |
| XM_017009969.2:c.15659A>G | XP_016865458.1:p.Asn5220Ser | |
| XM_017009972.1:c.8777A>G | XP_016865461.1:p.Asn2926Ser | |
| XM_017009973.1:c.8756A>G | XP_016865462.1:p.Asn2919Ser | |
| NR_003149.2:n.15654A>G |