Linked Data
ClinVar Variation Id:
242254
dbSNP Id:
rs11042950
ExAC:
11:2189718 C / T
gnomAD v2:
11-2189718-C-T
gnomAD v3:
11-2168488-C-T
gnomAD v4:
11-2168488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2168488C>T , CM000673.2:g.2168488C>T | GRCh38 |
| NC_000011.9:g.2189718C>T , CM000673.1:g.2189718C>T | GRCh37 |
| NC_000011.8:g.2146294C>T | NCBI36 |
| NG_008128.1:g.8318G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.487+3G>A MANE Select | ENSP00000325951.4:n.487+3G>A | |
| ENST00000324155.8:c.*176+3G>A | ENSP00000325831.3:n.*176+3G>A | |
| ENST00000333684.9:c.487+3G>A | ENSP00000328814.6:n.487+3G>A | |
| ENST00000352909.7:c.487+3G>A | ENSP00000325951.3:n.487+3G>A | |
| ENST00000381168.7:c.*176+3G>A | ENSP00000370560.3:n.*176+3G>A | |
| ENST00000381175.5:c.568+3G>A | ENSP00000370567.1:n.568+3G>A | |
| ENST00000381178.5:c.580+3G>A | ENSP00000370571.1:n.580+3G>A | |
| ENST00000469226.1:n.236+3G>A | ||
| NM_000360.3:c.487+3G>A | NP_000351.2:n.487+3G>A | |
| NM_199292.2:c.580+3G>A | NP_954986.2:n.580+3G>A | |
| NM_199293.2:c.568+3G>A | NP_954987.2:n.568+3G>A | |
| XM_011520335.1:c.499+3G>A | XP_011518637.1:n.499+3G>A | |
| XM_011520335.2:c.499+3G>A | XP_011518637.1:n.499+3G>A | |
| NM_000360.4:c.487+3G>A MANE Select | NP_000351.2:n.487+3G>A | |
| NM_199292.3:c.580+3G>A | NP_954986.2:n.580+3G>A | |
| NM_199293.3:c.568+3G>A | NP_954987.2:n.568+3G>A |