Linked Data
dbSNP Id:
rs746914023
ExAC:
6:51524619 A / C
gnomAD v2:
6-51524619-A-C
gnomAD v4:
6-51659821-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659821A>C , CM000668.2:g.51659821A>C | GRCh38 |
| NC_000006.11:g.51524619A>C , CM000668.1:g.51524619A>C | GRCh37 |
| NC_000006.10:g.51632578A>C | NCBI36 |
| NG_008753.1:g.432805T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10305T>G MANE Select | ENSP00000360158.3:p.Ser3435Arg | |
| ENST00000371117.7:c.10305T>G | ENSP00000360158.3:p.Ser3435Arg | |
| NM_138694.3:c.10305T>G | NP_619639.3:p.Ser3435Arg | |
| XM_011514679.1:c.10305T>G | XP_011512981.1:p.Ser3435Arg | |
| XM_011514680.1:c.10305T>G | XP_011512982.1:p.Ser3435Arg | |
| XM_011514681.1:c.10176T>G | XP_011512983.1:p.Ser3392Arg | |
| XM_011514682.1:c.10167T>G | XP_011512984.1:p.Ser3389Arg | |
| XM_011514683.1:c.9663T>G | XP_011512985.1:p.Ser3221Arg | |
| XM_011514684.1:c.9594T>G | XP_011512986.1:p.Ser3198Arg | |
| XM_011514687.1:c.10157-10601T>G | XP_011512989.1:n.10157-10601T>G | |
| XM_011514690.1:c.4380T>G | XP_011512992.1:p.Ser1460Arg | |
| XM_011514691.1:c.4380T>G | XP_011512993.1:p.Ser1460Arg | |
| XR_926870.1:n.535+7448A>C | ||
| XR_926871.1:n.403+7448A>C | ||
| XR_926872.1:n.535+7448A>C | ||
| XM_011514680.3:c.10305T>G | XP_011512982.1:p.Ser3435Arg | |
| XM_011514682.3:c.10167T>G | XP_011512984.1:p.Ser3389Arg | |
| XM_011514683.3:c.9663T>G | XP_011512985.1:p.Ser3221Arg | |
| XM_011514684.3:c.9594T>G | XP_011512986.1:p.Ser3198Arg | |
| XM_011514690.3:c.4380T>G | XP_011512992.1:p.Ser1460Arg | |
| XM_011514691.3:c.4380T>G | XP_011512993.1:p.Ser1460Arg | |
| XM_017010944.2:c.10305T>G | XP_016866433.1:p.Ser3435Arg | |
| XM_017010945.2:c.10230T>G | XP_016866434.1:p.Ser3410Arg | |
| XM_017010946.2:c.10110T>G | XP_016866435.1:p.Ser3370Arg | |
| XM_017010947.2:c.10041T>G | XP_016866436.1:p.Ser3347Arg | |
| XM_017010948.2:c.9594T>G | XP_016866437.1:p.Ser3198Arg | |
| XM_017010949.2:c.8445T>G | XP_016866438.1:p.Ser2815Arg | |
| XR_001743469.1:n.10581T>G | ||
| XR_001744157.1:n.3145+7448A>C | ||
| XR_926870.2:n.3145+7448A>C | ||
| XR_926871.2:n.3013+7448A>C | ||
| XR_926872.2:n.3145+7448A>C | ||
| NM_138694.4:c.10305T>G MANE Select | NP_619639.3:p.Ser3435Arg |