Linked Data
ClinVar Variation Id:
2998809
ClinVar RCV Id:
RCV003859456
dbSNP Id:
rs1767331850
MyVariant Identifiers:
chr6:g.51491847G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627049G>C , CM000668.2:g.51627049G>C | GRCh38 |
| NC_000006.11:g.51491847G>C , CM000668.1:g.51491847G>C | GRCh37 |
| NC_000006.10:g.51599806G>C | NCBI36 |
| NG_008753.1:g.465577C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11733C>G MANE Select | ENSP00000360158.3:p.Ser3911= | |
| ENST00000371117.7:c.11733C>G | ENSP00000360158.3:p.Ser3911= | |
| NM_138694.3:c.11733C>G | NP_619639.3:p.Ser3911= | |
| XM_011514679.1:c.11733C>G | XP_011512981.1:p.Ser3911= | |
| XM_011514680.1:c.11733C>G | XP_011512982.1:p.Ser3911= | |
| XM_011514681.1:c.11604C>G | XP_011512983.1:p.Ser3868= | |
| XM_011514682.1:c.11595C>G | XP_011512984.1:p.Ser3865= | |
| XM_011514683.1:c.11091C>G | XP_011512985.1:p.Ser3697= | |
| XM_011514684.1:c.11022C>G | XP_011512986.1:p.Ser3674= | |
| XM_011514690.1:c.5808C>G | XP_011512992.1:p.Ser1936= | |
| XM_011514691.1:c.5808C>G | XP_011512993.1:p.Ser1936= | |
| XM_011514680.3:c.11733C>G | XP_011512982.1:p.Ser3911= | |
| XM_011514682.3:c.11595C>G | XP_011512984.1:p.Ser3865= | |
| XM_011514683.3:c.11091C>G | XP_011512985.1:p.Ser3697= | |
| XM_011514684.3:c.11022C>G | XP_011512986.1:p.Ser3674= | |
| XM_011514690.3:c.5808C>G | XP_011512992.1:p.Ser1936= | |
| XM_011514691.3:c.5808C>G | XP_011512993.1:p.Ser1936= | |
| XM_017010944.2:c.11733C>G | XP_016866433.1:p.Ser3911= | |
| XM_017010945.2:c.11658C>G | XP_016866434.1:p.Ser3886= | |
| XM_017010946.2:c.11538C>G | XP_016866435.1:p.Ser3846= | |
| XM_017010947.2:c.11469C>G | XP_016866436.1:p.Ser3823= | |
| XM_017010948.2:c.11022C>G | XP_016866437.1:p.Ser3674= | |
| XM_017010949.2:c.9873C>G | XP_016866438.1:p.Ser3291= | |
| NM_138694.4:c.11733C>G MANE Select | NP_619639.3:p.Ser3911= |