Linked Data
dbSNP Id:
rs756678813
ExAC:
17:42452061 A / G
gnomAD v2:
17-42452061-A-G
gnomAD v3:
17-44374693-A-G
gnomAD v4:
17-44374693-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374693A>G , CM000679.2:g.44374693A>G | GRCh38 |
| NC_000017.10:g.42452061A>G , CM000679.1:g.42452061A>G | GRCh37 |
| NC_000017.9:g.39807587A>G | NCBI36 |
| NG_008331.1:g.19813T>C , LRG_479:g.19813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2909T>C MANE Select | ENSP00000262407.5:p.Val970Ala | |
| ENST00000648408.1:c.2340T>C | ||
| ENST00000262407.5:c.2909T>C | ENSP00000262407.5:p.Val970Ala | |
| ENST00000587295.5:c.253+1140T>C | ||
| ENST00000588098.1:c.3T>C | ||
| ENST00000592462.5:n.2420T>C | ||
| NM_000419.3:c.2909T>C , LRG_479t1:c.2909T>C | NP_000410.2:p.Val970Ala | |
| XM_011524749.1:c.2842-223T>C | XP_011523051.1:n.2842-223T>C | |
| XM_011524750.1:c.2909T>C | XP_011523052.1:p.Val970Ala | |
| NM_000419.4:c.2909T>C | NP_000410.2:p.Val970Ala | |
| NM_000419.5:c.2909T>C MANE Select | NP_000410.2:p.Val970Ala |