Linked Data
ClinVar Variation Id:
2985381
dbSNP Id:
rs748198461
ExAC:
1:202565930 G / C
gnomAD v2:
1-202565930-G-C
gnomAD v3:
1-202596802-G-C
gnomAD v4:
1-202596802-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596802G>C , CM000663.2:g.202596802G>C | GRCh38 |
| NC_000001.10:g.202565930G>C , CM000663.1:g.202565930G>C | GRCh37 |
| NC_000001.9:g.200832553G>C | NCBI36 |
| NG_041776.1:g.118622C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1215C>G MANE Select | ENSP00000356237.4:p.Leu405= | |
| ENST00000367267.5:c.1215C>G | ENSP00000356236.1:p.Leu405= | |
| ENST00000367268.4:c.1215C>G | ENSP00000356237.4:p.Leu405= | |
| NM_001136504.1:c.1215C>G | NP_001129976.1:p.Leu405= | |
| NM_177402.4:c.1215C>G | NP_796376.2:p.Leu405= | |
| XM_011509192.1:c.1224C>G | XP_011507494.1:p.Leu408= | |
| XM_011509192.2:c.1224C>G | XP_011507494.1:p.Leu408= | |
| XM_017000309.2:c.1395C>G | XP_016855798.1:p.Leu465= | |
| XM_017000310.2:c.1386C>G | XP_016855799.1:p.Leu462= | |
| XM_017000311.2:c.1224C>G | XP_016855800.1:p.Leu408= | |
| XM_017000312.1:c.1224C>G | XP_016855801.1:p.Leu408= | |
| XM_017000313.1:c.1215C>G | XP_016855802.1:p.Leu405= | |
| NM_177402.5:c.1215C>G MANE Select | NP_796376.2:p.Leu405= |