Linked Data
dbSNP Id:
rs758665885
ExAC:
6:51524062 T / C
gnomAD v2:
6-51524062-T-C
gnomAD v4:
6-51659264-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659264T>C , CM000668.2:g.51659264T>C | GRCh38 |
| NC_000006.11:g.51524062T>C , CM000668.1:g.51524062T>C | GRCh37 |
| NC_000006.10:g.51632021T>C | NCBI36 |
| NG_008753.1:g.433362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10862A>G MANE Select | ENSP00000360158.3:p.Asn3621Ser | |
| ENST00000371117.7:c.10862A>G | ENSP00000360158.3:p.Asn3621Ser | |
| NM_138694.3:c.10862A>G | NP_619639.3:p.Asn3621Ser | |
| XM_011514679.1:c.10862A>G | XP_011512981.1:p.Asn3621Ser | |
| XM_011514680.1:c.10862A>G | XP_011512982.1:p.Asn3621Ser | |
| XM_011514681.1:c.10733A>G | XP_011512983.1:p.Asn3578Ser | |
| XM_011514682.1:c.10724A>G | XP_011512984.1:p.Asn3575Ser | |
| XM_011514683.1:c.10220A>G | XP_011512985.1:p.Asn3407Ser | |
| XM_011514684.1:c.10151A>G | XP_011512986.1:p.Asn3384Ser | |
| XM_011514687.1:c.10157-10044A>G | XP_011512989.1:n.10157-10044A>G | |
| XM_011514690.1:c.4937A>G | XP_011512992.1:p.Asn1646Ser | |
| XM_011514691.1:c.4937A>G | XP_011512993.1:p.Asn1646Ser | |
| XR_926870.1:n.535+6891T>C | ||
| XR_926871.1:n.403+6891T>C | ||
| XR_926872.1:n.535+6891T>C | ||
| XM_011514680.3:c.10862A>G | XP_011512982.1:p.Asn3621Ser | |
| XM_011514682.3:c.10724A>G | XP_011512984.1:p.Asn3575Ser | |
| XM_011514683.3:c.10220A>G | XP_011512985.1:p.Asn3407Ser | |
| XM_011514684.3:c.10151A>G | XP_011512986.1:p.Asn3384Ser | |
| XM_011514690.3:c.4937A>G | XP_011512992.1:p.Asn1646Ser | |
| XM_011514691.3:c.4937A>G | XP_011512993.1:p.Asn1646Ser | |
| XM_017010944.2:c.10862A>G | XP_016866433.1:p.Asn3621Ser | |
| XM_017010945.2:c.10787A>G | XP_016866434.1:p.Asn3596Ser | |
| XM_017010946.2:c.10667A>G | XP_016866435.1:p.Asn3556Ser | |
| XM_017010947.2:c.10598A>G | XP_016866436.1:p.Asn3533Ser | |
| XM_017010948.2:c.10151A>G | XP_016866437.1:p.Asn3384Ser | |
| XM_017010949.2:c.9002A>G | XP_016866438.1:p.Asn3001Ser | |
| XR_001743469.1:n.11138A>G | ||
| XR_001744157.1:n.3145+6891T>C | ||
| XR_926870.2:n.3145+6891T>C | ||
| XR_926871.2:n.3013+6891T>C | ||
| XR_926872.2:n.3145+6891T>C | ||
| NM_138694.4:c.10862A>G MANE Select | NP_619639.3:p.Asn3621Ser |