Linked Data
ClinVar Variation Id:
2432887
ClinVar RCV Id:
RCV003131276
dbSNP Id:
rs767931999
ExAC:
17:42449764 G / A
gnomAD v2:
17-42449764-G-A
gnomAD v4:
17-44372396-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372396G>A , CM000679.2:g.44372396G>A | GRCh38 |
| NC_000017.10:g.42449764G>A , CM000679.1:g.42449764G>A | GRCh37 |
| NC_000017.9:g.39805290G>A | NCBI36 |
| NG_008331.1:g.22110C>T , LRG_479:g.22110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3088C>T MANE Select | ENSP00000262407.5:p.Pro1030Ser | |
| ENST00000648408.1:c.2402C>T | ||
| ENST00000262407.5:c.3088C>T | ENSP00000262407.5:p.Pro1030Ser | |
| ENST00000587295.5:c.281C>T | ||
| ENST00000588098.1:c.65C>T | ||
| NM_000419.3:c.3088C>T , LRG_479t1:c.3088C>T | NP_000410.2:p.Pro1030Ser | |
| XM_011524749.1:c.2986C>T | XP_011523051.1:p.Pro996Ser | |
| XM_011524750.1:c.2971C>T | XP_011523052.1:p.Pro991Ser | |
| NM_000419.4:c.3088C>T | NP_000410.2:p.Pro1030Ser | |
| NM_000419.5:c.3088C>T MANE Select | NP_000410.2:p.Pro1030Ser |