Linked Data
gnomAD v4:
17-44372398-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372398G>C , CM000679.2:g.44372398G>C | GRCh38 |
| NC_000017.10:g.42449766G>C , CM000679.1:g.42449766G>C | GRCh37 |
| NC_000017.9:g.39805292G>C | NCBI36 |
| NG_008331.1:g.22108C>G , LRG_479:g.22108C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3086C>G MANE Select | ENSP00000262407.5:p.Pro1029Arg | |
| ENST00000648408.1:c.2400C>G | ||
| ENST00000262407.5:c.3086C>G | ENSP00000262407.5:p.Pro1029Arg | |
| ENST00000587295.5:c.279C>G | ||
| ENST00000588098.1:c.63C>G | ||
| NM_000419.3:c.3086C>G , LRG_479t1:c.3086C>G | NP_000410.2:p.Pro1029Arg | |
| XM_011524749.1:c.2984C>G | XP_011523051.1:p.Pro995Arg | |
| XM_011524750.1:c.2969C>G | XP_011523052.1:p.Pro990Arg | |
| NM_000419.4:c.3086C>G | NP_000410.2:p.Pro1029Arg | |
| NM_000419.5:c.3086C>G MANE Select | NP_000410.2:p.Pro1029Arg |