Linked Data
ClinVar Variation Id:
410604
dbSNP Id:
rs149732789
ExAC:
19:40900679 G / C
gnomAD v2:
19-40900679-G-C
gnomAD v3:
19-40394772-G-C
gnomAD v4:
19-40394772-G-C
COSMIC:
COSM388506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394772G>C , CM000681.2:g.40394772G>C | GRCh38 |
| NC_000019.9:g.40900679G>C , CM000681.1:g.40900679G>C | GRCh37 |
| NC_000019.8:g.45592519G>C | NCBI36 |
| NG_007979.1:g.23593C>G , LRG_265:g.23593C>G | |
| NG_051224.1:g.450C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3580C>G MANE Select | ENSP00000326018.6:p.Leu1194Val | |
| ENST00000673881.1:c.3163C>G | ENSP00000501070.1:p.Leu1055Val | |
| ENST00000674005.2:c.3865C>G | ENSP00000501261.1:p.Leu1289Val | |
| ENST00000674773.1:c.3163C>G | ENSP00000502579.1:p.Leu1055Val | |
| ENST00000675517.1:c.3455C>G | ||
| ENST00000676076.1:c.3441C>G | ||
| ENST00000676260.1:c.3542C>G | ||
| ENST00000676316.1:c.3467C>G | ||
| ENST00000291825.11:c.*3785C>G | ENSP00000291825.6:n.*3785C>G | |
| ENST00000324001.7:c.3580C>G | ENSP00000326018.6:p.Leu1194Val | |
| NM_020956.2:c.*3785C>G , LRG_265t1:c.*3785C>G | NP_066007.1:n.*3785C>G | |
| NM_181882.2:c.3580C>G , LRG_265t2:c.3580C>G | NP_870998.2:p.Leu1194Val | |
| XM_011527171.1:c.3580C>G | XP_011525473.1:p.Leu1194Val | |
| XM_011527171.2:c.3580C>G | XP_011525473.1:p.Leu1194Val | |
| XM_017027046.1:c.3478C>G | XP_016882535.1:p.Leu1160Val | |
| XM_017027047.1:c.3478C>G | XP_016882536.1:p.Leu1160Val | |
| NM_181882.3:c.3580C>G MANE Select | NP_870998.2:p.Leu1194Val |