Linked Data
ClinVar Variation Id:
46011
dbSNP Id:
rs111033493
ExAC:
10:73553174 G / C
gnomAD v2:
10-73553174-G-C
gnomAD v3:
10-71793417-G-C
gnomAD v4:
10-71793417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793417G>C , CM000672.2:g.71793417G>C | GRCh38 |
| NC_000010.10:g.73553174G>C , CM000672.1:g.73553174G>C | GRCh37 |
| NC_000010.9:g.73223180G>C | NCBI36 |
| NG_008835.1:g.401471G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6489G>C MANE Select | ENSP00000224721.9:p.Leu2163= | |
| ENST00000224721.10:c.6504G>C | ENSP00000224721.8:p.Leu2168= | |
| ENST00000622827.4:c.6489G>C | ENSP00000483211.1:p.Leu2163= | |
| NM_022124.5:c.6489G>C | NP_071407.4:p.Leu2163= | |
| XM_006717940.2:c.6684G>C | XP_006718003.1:p.Leu2228= | |
| XM_006717942.2:c.6618G>C | XP_006718005.1:p.Leu2206= | |
| XM_011540039.1:c.6681G>C | XP_011538341.1:p.Leu2227= | |
| XM_011540040.1:c.6678G>C | XP_011538342.1:p.Leu2226= | |
| XM_011540041.1:c.6624G>C | XP_011538343.1:p.Leu2208= | |
| XM_011540042.1:c.6594G>C | XP_011538344.1:p.Leu2198= | |
| XM_011540043.1:c.6684G>C | XP_011538345.1:p.Leu2228= | |
| XM_011540044.1:c.6549G>C | XP_011538346.1:p.Leu2183= | |
| XM_011540045.1:c.6684G>C | XP_011538347.1:p.Leu2228= | |
| XM_011540046.1:c.6144G>C | XP_011538348.1:p.Leu2048= | |
| XM_011540047.1:c.5502G>C | XP_011538349.1:p.Leu1834= | |
| XM_011540048.1:c.6684G>C | XP_011538350.1:p.Leu2228= | |
| XM_011540049.1:c.6684G>C | XP_011538351.1:p.Leu2228= | |
| XM_011540050.1:c.6684G>C | XP_011538352.1:p.Leu2228= | |
| XM_011540051.1:c.6684G>C | XP_011538353.1:p.Leu2228= | |
| XM_011540052.1:c.3012G>C | XP_011538354.1:p.Leu1004= | |
| XR_945796.1:n.6927G>C | ||
| NM_022124.6:c.6489G>C MANE Select | NP_071407.4:p.Leu2163= |