Linked Data
ClinVar Variation Id:
750094
ClinVar RCV Id:
RCV000927035
dbSNP Id:
rs1257842955
gnomAD v4:
6-107634764-C-G
MyVariant Identifiers:
chr6:g.107955968C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634764C>G , CM000668.2:g.107634764C>G | GRCh38 |
| NC_000006.11:g.107955968C>G , CM000668.1:g.107955968C>G | GRCh37 |
| NC_000006.10:g.108062661C>G | NCBI36 |
| NG_028200.1:g.149652C>G | |
| NG_028200.2:g.149652C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1920C>G MANE Select | ENSP00000318900.5:p.Leu640= | |
| ENST00000317357.9:c.1920C>G | ENSP00000318900.5:p.Leu640= | |
| NM_018013.3:c.1920C>G | NP_060483.3:p.Leu640= | |
| XM_005267041.3:c.2073C>G | XP_005267098.1:p.Leu691= | |
| XM_005267042.3:c.1977C>G | XP_005267099.1:p.Leu659= | |
| XM_011535920.1:c.2073C>G | XP_011534222.1:p.Leu691= | |
| XM_011535921.1:c.1959C>G | XP_011534223.1:p.Leu653= | |
| XM_011535922.1:c.1332C>G | XP_011534224.1:p.Leu444= | |
| XM_011535923.1:c.1143C>G | XP_011534225.1:p.Leu381= | |
| XM_005267041.4:c.2073C>G | XP_005267098.1:p.Leu691= | |
| XM_005267042.4:c.1977C>G | XP_005267099.1:p.Leu659= | |
| XM_011535920.2:c.2073C>G | XP_011534222.1:p.Leu691= | |
| XM_011535921.2:c.1959C>G | XP_011534223.1:p.Leu653= | |
| XM_011535923.2:c.1143C>G | XP_011534225.1:p.Leu381= | |
| XM_017010991.1:c.1473C>G | XP_016866480.1:p.Leu491= | |
| XM_017010992.1:c.1473C>G | XP_016866481.1:p.Leu491= | |
| XM_017010993.1:c.1473C>G | XP_016866482.1:p.Leu491= | |
| XM_017010994.1:c.1473C>G | XP_016866483.1:p.Leu491= | |
| NM_018013.4:c.1920C>G MANE Select | NP_060483.3:p.Leu640= |