Linked Data
ClinVar Variation Id:
386972
dbSNP Id:
rs1057522657
gnomAD v4:
19-40395385-G-C
COSMIC:
COSM6220193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395385G>C , CM000681.2:g.40395385G>C | GRCh38 |
| NC_000019.9:g.40901292G>C , CM000681.1:g.40901292G>C | GRCh37 |
| NC_000019.8:g.45593132G>C | NCBI36 |
| NG_007979.1:g.22980C>G , LRG_265:g.22980C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.2967C>G MANE Select | ENSP00000326018.6:p.Leu989= | |
| ENST00000673881.1:c.2550C>G | ENSP00000501070.1:p.Leu850= | |
| ENST00000674005.2:c.3252C>G | ENSP00000501261.1:p.Leu1084= | |
| ENST00000674773.1:c.2550C>G | ENSP00000502579.1:p.Leu850= | |
| ENST00000675517.1:c.2842C>G | ||
| ENST00000676076.1:c.2828C>G | ||
| ENST00000676260.1:c.2929C>G | ||
| ENST00000676316.1:c.2854C>G | ||
| ENST00000291825.11:c.*3172C>G | ENSP00000291825.6:n.*3172C>G | |
| ENST00000324001.7:c.2967C>G | ENSP00000326018.6:p.Leu989= | |
| NM_020956.2:c.*3172C>G , LRG_265t1:c.*3172C>G | NP_066007.1:n.*3172C>G | |
| NM_181882.2:c.2967C>G , LRG_265t2:c.2967C>G | NP_870998.2:p.Leu989= | |
| XM_011527171.1:c.2967C>G | XP_011525473.1:p.Leu989= | |
| XM_011527171.2:c.2967C>G | XP_011525473.1:p.Leu989= | |
| XM_017027046.1:c.2865C>G | XP_016882535.1:p.Leu955= | |
| XM_017027047.1:c.2865C>G | XP_016882536.1:p.Leu955= | |
| NM_181882.3:c.2967C>G MANE Select | NP_870998.2:p.Leu989= |