Linked Data
ClinVar Variation Id:
435530
dbSNP Id:
rs5913
ExAC:
17:42452054 C / T
gnomAD v2:
17-42452054-C-T
gnomAD v3:
17-44374686-C-T
gnomAD v4:
17-44374686-C-T
ERepo:
CA8602530/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374686C>T , CM000679.2:g.44374686C>T | GRCh38 |
| NC_000017.10:g.42452054C>T , CM000679.1:g.42452054C>T | GRCh37 |
| NC_000017.9:g.39807580C>T | NCBI36 |
| NG_008331.1:g.19820G>A , LRG_479:g.19820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2916G>A MANE Select | ENSP00000262407.5:p.Pro972= | |
| ENST00000648408.1:c.2347G>A | ||
| ENST00000262407.5:c.2916G>A | ENSP00000262407.5:p.Pro972= | |
| ENST00000587295.5:c.253+1147G>A | ||
| ENST00000588098.1:c.10G>A | ||
| ENST00000592462.5:n.2427G>A | ||
| NM_000419.3:c.2916G>A , LRG_479t1:c.2916G>A | NP_000410.2:p.Pro972= | |
| XM_011524749.1:c.2842-216G>A | XP_011523051.1:n.2842-216G>A | |
| XM_011524750.1:c.2916G>A | XP_011523052.1:p.Pro972= | |
| NM_000419.4:c.2916G>A | NP_000410.2:p.Pro972= | |
| NM_000419.5:c.2916G>A MANE Select | NP_000410.2:p.Pro972= |