Linked Data
gnomAD v3:
17-44372393-G-A
gnomAD v4:
17-44372393-G-A
MyVariant Identifiers:
chr17:g.42449761G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372393G>A , CM000679.2:g.44372393G>A | GRCh38 |
| NC_000017.10:g.42449761G>A , CM000679.1:g.42449761G>A | GRCh37 |
| NC_000017.9:g.39805287G>A | NCBI36 |
| NG_008331.1:g.22113C>T , LRG_479:g.22113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3091C>T MANE Select | ENSP00000262407.5:p.Leu1031= | |
| ENST00000648408.1:c.2405C>T | ||
| ENST00000262407.5:c.3091C>T | ENSP00000262407.5:p.Leu1031= | |
| ENST00000587295.5:c.284C>T | ||
| ENST00000588098.1:c.68C>T | ||
| NM_000419.3:c.3091C>T , LRG_479t1:c.3091C>T | NP_000410.2:p.Leu1031= | |
| XM_011524749.1:c.2989C>T | XP_011523051.1:p.Leu997= | |
| XM_011524750.1:c.2974C>T | XP_011523052.1:p.Leu992= | |
| NM_000419.4:c.3091C>T | NP_000410.2:p.Leu1031= | |
| NM_000419.5:c.3091C>T MANE Select | NP_000410.2:p.Leu1031= |