Linked Data
ClinVar Variation Id:
304082
ClinVar RCV Id:
RCV000393084
dbSNP Id:
rs538345855
ExAC:
11:2189904 G / A
gnomAD v2:
11-2189904-G-A
gnomAD v3:
11-2168674-G-A
gnomAD v4:
11-2168674-G-A
COSMIC:
COSM6025107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2168674G>A , CM000673.2:g.2168674G>A | GRCh38 |
| NC_000011.9:g.2189904G>A , CM000673.1:g.2189904G>A | GRCh37 |
| NC_000011.8:g.2146480G>A | NCBI36 |
| NG_008128.1:g.8132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.313-9C>T MANE Select | ENSP00000325951.4:n.313-9C>T | |
| ENST00000324155.8:c.*2-9C>T | ENSP00000325831.3:n.*2-9C>T | |
| ENST00000333684.9:c.313-9C>T | ENSP00000328814.6:n.313-9C>T | |
| ENST00000352909.7:c.313-9C>T | ENSP00000325951.3:n.313-9C>T | |
| ENST00000381168.7:c.*2-9C>T | ENSP00000370560.3:n.*2-9C>T | |
| ENST00000381175.5:c.394-9C>T | ENSP00000370567.1:n.394-9C>T | |
| ENST00000381178.5:c.406-9C>T | ENSP00000370571.1:n.406-9C>T | |
| ENST00000469226.1:n.53C>T | ||
| NM_000360.3:c.313-9C>T | NP_000351.2:n.313-9C>T | |
| NM_199292.2:c.406-9C>T | NP_954986.2:n.406-9C>T | |
| NM_199293.2:c.394-9C>T | NP_954987.2:n.394-9C>T | |
| XM_011520335.1:c.325-9C>T | XP_011518637.1:n.325-9C>T | |
| XM_011520335.2:c.325-9C>T | XP_011518637.1:n.325-9C>T | |
| NM_000360.4:c.313-9C>T MANE Select | NP_000351.2:n.313-9C>T | |
| NM_199292.3:c.406-9C>T | NP_954986.2:n.406-9C>T | |
| NM_199293.3:c.394-9C>T | NP_954987.2:n.394-9C>T |