Linked Data
dbSNP Id:
rs746099844
ExAC:
6:51523988 A / C
gnomAD v2:
6-51523988-A-C
gnomAD v4:
6-51659190-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659190A>C , CM000668.2:g.51659190A>C | GRCh38 |
| NC_000006.11:g.51523988A>C , CM000668.1:g.51523988A>C | GRCh37 |
| NC_000006.10:g.51631947A>C | NCBI36 |
| NG_008753.1:g.433436T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10936T>G MANE Select | ENSP00000360158.3:p.Ser3646Ala | |
| ENST00000371117.7:c.10936T>G | ENSP00000360158.3:p.Ser3646Ala | |
| NM_138694.3:c.10936T>G | NP_619639.3:p.Ser3646Ala | |
| XM_011514679.1:c.10936T>G | XP_011512981.1:p.Ser3646Ala | |
| XM_011514680.1:c.10936T>G | XP_011512982.1:p.Ser3646Ala | |
| XM_011514681.1:c.10807T>G | XP_011512983.1:p.Ser3603Ala | |
| XM_011514682.1:c.10798T>G | XP_011512984.1:p.Ser3600Ala | |
| XM_011514683.1:c.10294T>G | XP_011512985.1:p.Ser3432Ala | |
| XM_011514684.1:c.10225T>G | XP_011512986.1:p.Ser3409Ala | |
| XM_011514687.1:c.10157-9970T>G | XP_011512989.1:n.10157-9970T>G | |
| XM_011514690.1:c.5011T>G | XP_011512992.1:p.Ser1671Ala | |
| XM_011514691.1:c.5011T>G | XP_011512993.1:p.Ser1671Ala | |
| XR_926870.1:n.535+6817A>C | ||
| XR_926871.1:n.403+6817A>C | ||
| XR_926872.1:n.535+6817A>C | ||
| XM_011514680.3:c.10936T>G | XP_011512982.1:p.Ser3646Ala | |
| XM_011514682.3:c.10798T>G | XP_011512984.1:p.Ser3600Ala | |
| XM_011514683.3:c.10294T>G | XP_011512985.1:p.Ser3432Ala | |
| XM_011514684.3:c.10225T>G | XP_011512986.1:p.Ser3409Ala | |
| XM_011514690.3:c.5011T>G | XP_011512992.1:p.Ser1671Ala | |
| XM_011514691.3:c.5011T>G | XP_011512993.1:p.Ser1671Ala | |
| XM_017010944.2:c.10936T>G | XP_016866433.1:p.Ser3646Ala | |
| XM_017010945.2:c.10861T>G | XP_016866434.1:p.Ser3621Ala | |
| XM_017010946.2:c.10741T>G | XP_016866435.1:p.Ser3581Ala | |
| XM_017010947.2:c.10672T>G | XP_016866436.1:p.Ser3558Ala | |
| XM_017010948.2:c.10225T>G | XP_016866437.1:p.Ser3409Ala | |
| XM_017010949.2:c.9076T>G | XP_016866438.1:p.Ser3026Ala | |
| XR_001743469.1:n.11212T>G | ||
| XR_001744157.1:n.3145+6817A>C | ||
| XR_926870.2:n.3145+6817A>C | ||
| XR_926871.2:n.3013+6817A>C | ||
| XR_926872.2:n.3145+6817A>C | ||
| NM_138694.4:c.10936T>G MANE Select | NP_619639.3:p.Ser3646Ala |