ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2164269C>T , CM000673.2:g.2164269C>T | GRCh38 |
| NC_000011.9:g.2185499C>T , CM000673.1:g.2185499C>T | GRCh37 |
| NC_000011.8:g.2142075C>T | NCBI36 |
| NG_007114.1:g.1926G>A | |
| NG_008128.1:g.12537G>A | |
| NG_050578.1:g.1941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1458G>A MANE Select | ENSP00000325951.4:p.Leu486= | |
| ENST00000333684.9:c.1176G>A | ENSP00000328814.6:p.Leu392= | |
| ENST00000352909.7:c.1458G>A | ENSP00000325951.3:p.Leu486= | |
| ENST00000381175.5:c.1539G>A | ENSP00000370567.1:p.Leu513= | |
| ENST00000381178.5:c.1551G>A | ENSP00000370571.1:p.Leu517= | |
| NM_000360.3:c.1458G>A | NP_000351.2:p.Leu486= | |
| NM_199292.2:c.1551G>A | NP_954986.2:p.Leu517= | |
| NM_199293.2:c.1539G>A | NP_954987.2:p.Leu513= | |
| XM_011520335.1:c.1470G>A | XP_011518637.1:p.Leu490= | |
| XM_011520335.2:c.1470G>A | XP_011518637.1:p.Leu490= | |
| NM_000360.4:c.1458G>A MANE Select | NP_000351.2:p.Leu486= | |
| NM_199292.3:c.1551G>A | NP_954986.2:p.Leu517= | |
| NM_199293.3:c.1539G>A | NP_954987.2:p.Leu513= |