Linked Data
ClinVar Variation Id:
288120
dbSNP Id:
rs755902927
ExAC:
2:238277582 G / C
gnomAD v2:
2-238277582-G-C
gnomAD v3:
2-237368939-G-C
gnomAD v4:
2-237368939-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237368939G>C , CM000664.2:g.237368939G>C | GRCh38 |
| NC_000002.11:g.238277582G>C , CM000664.1:g.238277582G>C | GRCh37 |
| NC_000002.10:g.237942321G>C | NCBI36 |
| NG_008676.1:g.50269C>G , LRG_473:g.50269C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3906C>G | ENSP00000315873.4:p.Leu1302= | |
| ENST00000684597.1:c.117-263C>G | ||
| ENST00000295550.9:c.4524C>G MANE Select | ENSP00000295550.4:p.Leu1508= | |
| ENST00000295550.8:c.4524C>G | ENSP00000295550.4:p.Leu1508= | |
| ENST00000347401.7:c.2703C>G | ENSP00000315609.4:p.Leu901= | |
| ENST00000353578.8:c.3906C>G | ENSP00000315873.4:p.Leu1302= | |
| ENST00000409809.5:c.3906C>G | ENSP00000386844.1:p.Leu1302= | |
| ENST00000472056.5:c.2703C>G | ENSP00000418285.1:p.Leu901= | |
| NM_004369.3:c.4524C>G , LRG_473t1:c.4524C>G | NP_004360.2:p.Leu1508= | |
| NM_057166.4:c.2703C>G | NP_476507.3:p.Leu901= | |
| NM_057167.3:c.3906C>G | NP_476508.2:p.Leu1302= | |
| XM_005246065.1:c.3924C>G | XP_005246122.1:p.Leu1308= | |
| XM_005246066.1:c.3303C>G | XP_005246123.1:p.Leu1101= | |
| XM_006712253.1:c.4286-263C>G | XP_006712316.1:n.4286-263C>G | |
| XM_011510574.1:c.4521C>G | XP_011508876.1:p.Leu1507= | |
| XM_011510575.1:c.2118C>G | XP_011508877.1:p.Leu706= | |
| XM_017003304.1:c.2118C>G | XP_016858793.1:p.Leu706= | |
| XM_024452684.1:c.3303C>G | XP_024308452.1:p.Leu1101= | |
| NM_004369.4:c.4524C>G MANE Select | NP_004360.2:p.Leu1508= | |
| NM_057166.5:c.2703C>G | NP_476507.3:p.Leu901= | |
| NM_057167.4:c.3906C>G | NP_476508.2:p.Leu1302= |