Linked Data
ClinVar Variation Id:
594711
dbSNP Id:
rs145227129
ExAC:
18:21115672 G / A
gnomAD v2:
18-21115672-G-A
gnomAD v3:
18-23535708-G-A
gnomAD v4:
18-23535708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23535708G>A , CM000680.2:g.23535708G>A | GRCh38 |
| NC_000018.9:g.21115672G>A , CM000680.1:g.21115672G>A | GRCh37 |
| NC_000018.8:g.19369670G>A | NCBI36 |
| NG_012795.1:g.55910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3246-8C>T MANE Select | ENSP00000269228.4:n.3246-8C>T | |
| ENST00000269228.9:c.3246-8C>T | ENSP00000269228.4:n.3246-8C>T | |
| ENST00000591051.1:c.2324-8C>T | ||
| NM_000271.4:c.3246-8C>T | NP_000262.2:n.3246-8C>T | |
| XM_005258277.1:c.3297-8C>T | XP_005258334.1:n.3297-8C>T | |
| XM_005258278.3:c.3297-8C>T | XP_005258335.1:n.3297-8C>T | |
| XM_005258279.1:c.3246-8C>T | XP_005258336.1:n.3246-8C>T | |
| XM_006722479.2:c.3297-8C>T | XP_006722542.1:n.3297-8C>T | |
| XM_011526015.1:c.2832-8C>T | XP_011524317.1:n.2832-8C>T | |
| XM_005258278.5:c.3297-8C>T | XP_005258335.1:n.3297-8C>T | |
| XM_005258279.2:c.3246-8C>T | XP_005258336.1:n.3246-8C>T | |
| XM_006722479.3:c.3297-8C>T | XP_006722542.1:n.3297-8C>T | |
| XM_017025784.1:c.3297-8C>T | XP_016881273.1:n.3297-8C>T | |
| XM_017025785.1:c.3297-8C>T | XP_016881274.1:n.3297-8C>T | |
| XM_017025786.1:c.3246-8C>T | XP_016881275.1:n.3246-8C>T | |
| XM_017025787.1:c.3246-8C>T | XP_016881276.1:n.3246-8C>T | |
| NM_000271.5:c.3246-8C>T MANE Select | NP_000262.2:n.3246-8C>T |