Linked Data
dbSNP Id:
rs561395069
ExAC:
17:42449741 C / A
gnomAD v2:
17-42449741-C-A
gnomAD v4:
17-44372373-C-A
MyVariant Identifiers:
chr17:g.42449741C>A (hg19)
chr17:g.42449741_42449744delinsATCT (hg19)
chr17:g.44372373C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372373C>A , CM000679.2:g.44372373C>A | GRCh38 |
| NC_000017.10:g.42449741C>A , CM000679.1:g.42449741C>A | GRCh37 |
| NC_000017.9:g.39805267C>A | NCBI36 |
| NG_008331.1:g.22133G>T , LRG_479:g.22133G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3111G>T MANE Select | ENSP00000262407.5:p.Glu1037Asp | |
| ENST00000648408.1:c.2425G>T | ||
| ENST00000262407.5:c.3111G>T | ENSP00000262407.5:p.Glu1037Asp | |
| ENST00000587295.5:c.304G>T | ||
| ENST00000588098.1:c.88G>T | ||
| NM_000419.3:c.3111G>T , LRG_479t1:c.3111G>T | NP_000410.2:p.Glu1037Asp | |
| XM_011524749.1:c.3009G>T | XP_011523051.1:p.Glu1003Asp | |
| XM_011524750.1:c.2994G>T | XP_011523052.1:p.Glu998Asp | |
| NM_000419.4:c.3111G>T | NP_000410.2:p.Glu1037Asp | |
| NM_000419.5:c.3111G>T MANE Select | NP_000410.2:p.Glu1037Asp |