Linked Data
ClinVar Variation Id:
877622
ClinVar RCV Id:
RCV001103466
dbSNP Id:
rs372393199
ExAC:
11:2190990 G / A
gnomAD v2:
11-2190990-G-A
gnomAD v4:
11-2169760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169760G>A , CM000673.2:g.2169760G>A | GRCh38 |
| NC_000011.9:g.2190990G>A , CM000673.1:g.2190990G>A | GRCh37 |
| NC_000011.8:g.2147566G>A | NCBI36 |
| NG_008128.1:g.7046C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.202C>T MANE Select | ENSP00000325951.4:p.Leu68= | |
| ENST00000324155.8:c.91-65C>T | ENSP00000325831.3:n.91-65C>T | |
| ENST00000333684.9:c.202C>T | ENSP00000328814.6:p.Leu68= | |
| ENST00000352909.7:c.202C>T | ENSP00000325951.3:p.Leu68= | |
| ENST00000381168.7:c.103-65C>T | ENSP00000370560.3:n.103-65C>T | |
| ENST00000381175.5:c.283C>T | ENSP00000370567.1:p.Leu95= | |
| ENST00000381178.5:c.295C>T | ENSP00000370571.1:p.Leu99= | |
| NM_000360.3:c.202C>T | NP_000351.2:p.Leu68= | |
| NM_199292.2:c.295C>T | NP_954986.2:p.Leu99= | |
| NM_199293.2:c.283C>T | NP_954987.2:p.Leu95= | |
| XM_011520335.1:c.214C>T | XP_011518637.1:p.Leu72= | |
| XM_011520335.2:c.214C>T | XP_011518637.1:p.Leu72= | |
| NM_000360.4:c.202C>T MANE Select | NP_000351.2:p.Leu68= | |
| NM_199292.3:c.295C>T | NP_954986.2:p.Leu99= | |
| NM_199293.3:c.283C>T | NP_954987.2:p.Leu95= |