Linked Data
ClinVar Variation Id:
1089154
ClinVar RCV Id:
RCV001407908
dbSNP Id:
rs370638485
ExAC:
11:17408886 C / G
gnomAD v2:
11-17408886-C-G
gnomAD v4:
11-17387339-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387339C>G , CM000673.2:g.17387339C>G | GRCh38 |
| NC_000011.9:g.17408886C>G , CM000673.1:g.17408886C>G | GRCh37 |
| NC_000011.8:g.17365462C>G | NCBI36 |
| NG_012446.1:g.6321G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.492G>C | ENSP00000508090.1:p.Leu164= | |
| ENST00000682764.1:c.492G>C | ENSP00000506780.1:p.Leu164= | |
| ENST00000339994.5:c.753G>C MANE Select | ENSP00000345708.4:p.Leu251= | |
| ENST00000339994.4:c.753G>C | ENSP00000345708.4:p.Leu251= | |
| ENST00000528731.1:c.492G>C | ENSP00000434755.1:p.Leu164= | |
| NM_000525.3:c.753G>C | NP_000516.3:p.Leu251= | |
| NM_001166290.1:c.492G>C | NP_001159762.1:p.Leu164= | |
| XM_006718226.2:c.492G>C | XP_006718289.1:p.Leu164= | |
| XR_930867.1:n.911G>C | ||
| XM_006718226.3:c.492G>C | XP_006718289.1:p.Leu164= | |
| XM_017017680.1:c.492G>C | XP_016873169.1:p.Leu164= | |
| NM_001166290.2:c.492G>C | NP_001159762.1:p.Leu164= | |
| NM_001377296.1:c.492G>C | NP_001364225.1:p.Leu164= | |
| NM_001377297.1:c.492G>C | NP_001364226.1:p.Leu164= | |
| NM_000525.4:c.753G>C MANE Select | NP_000516.3:p.Leu251= |