Linked Data
ClinVar Variation Id:
370246
ClinVar RCV Id:
RCV000410089
dbSNP Id:
rs1057516345
gnomAD v2:
6-51524215-G-C
gnomAD v4:
6-51659417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659417G>C , CM000668.2:g.51659417G>C | GRCh38 |
| NC_000006.11:g.51524215G>C , CM000668.1:g.51524215G>C | GRCh37 |
| NC_000006.10:g.51632174G>C | NCBI36 |
| NG_008753.1:g.433209C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10709C>G MANE Select | ENSP00000360158.3:p.Ser3570Ter | |
| ENST00000371117.7:c.10709C>G | ENSP00000360158.3:p.Ser3570Ter | |
| NM_138694.3:c.10709C>G | NP_619639.3:p.Ser3570Ter | |
| XM_011514679.1:c.10709C>G | XP_011512981.1:p.Ser3570Ter | |
| XM_011514680.1:c.10709C>G | XP_011512982.1:p.Ser3570Ter | |
| XM_011514681.1:c.10580C>G | XP_011512983.1:p.Ser3527Ter | |
| XM_011514682.1:c.10571C>G | XP_011512984.1:p.Ser3524Ter | |
| XM_011514683.1:c.10067C>G | XP_011512985.1:p.Ser3356Ter | |
| XM_011514684.1:c.9998C>G | XP_011512986.1:p.Ser3333Ter | |
| XM_011514687.1:c.10157-10197C>G | XP_011512989.1:n.10157-10197C>G | |
| XM_011514690.1:c.4784C>G | XP_011512992.1:p.Ser1595Ter | |
| XM_011514691.1:c.4784C>G | XP_011512993.1:p.Ser1595Ter | |
| XR_926870.1:n.535+7044G>C | ||
| XR_926871.1:n.403+7044G>C | ||
| XR_926872.1:n.535+7044G>C | ||
| XM_011514680.3:c.10709C>G | XP_011512982.1:p.Ser3570Ter | |
| XM_011514682.3:c.10571C>G | XP_011512984.1:p.Ser3524Ter | |
| XM_011514683.3:c.10067C>G | XP_011512985.1:p.Ser3356Ter | |
| XM_011514684.3:c.9998C>G | XP_011512986.1:p.Ser3333Ter | |
| XM_011514690.3:c.4784C>G | XP_011512992.1:p.Ser1595Ter | |
| XM_011514691.3:c.4784C>G | XP_011512993.1:p.Ser1595Ter | |
| XM_017010944.2:c.10709C>G | XP_016866433.1:p.Ser3570Ter | |
| XM_017010945.2:c.10634C>G | XP_016866434.1:p.Ser3545Ter | |
| XM_017010946.2:c.10514C>G | XP_016866435.1:p.Ser3505Ter | |
| XM_017010947.2:c.10445C>G | XP_016866436.1:p.Ser3482Ter | |
| XM_017010948.2:c.9998C>G | XP_016866437.1:p.Ser3333Ter | |
| XM_017010949.2:c.8849C>G | XP_016866438.1:p.Ser2950Ter | |
| XR_001743469.1:n.10985C>G | ||
| XR_001744157.1:n.3145+7044G>C | ||
| XR_926870.2:n.3145+7044G>C | ||
| XR_926871.2:n.3013+7044G>C | ||
| XR_926872.2:n.3145+7044G>C | ||
| NM_138694.4:c.10709C>G MANE Select | NP_619639.3:p.Ser3570Ter |