Linked Data
dbSNP Id:
rs774585072
ExAC:
17:42449742 T / C
gnomAD v2:
17-42449742-T-C
gnomAD v3:
17-44372374-T-C
gnomAD v4:
17-44372374-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372374T>C , CM000679.2:g.44372374T>C | GRCh38 |
| NC_000017.10:g.42449742T>C , CM000679.1:g.42449742T>C | GRCh37 |
| NC_000017.9:g.39805268T>C | NCBI36 |
| NG_008331.1:g.22132A>G , LRG_479:g.22132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3110A>G MANE Select | ENSP00000262407.5:p.Glu1037Gly | |
| ENST00000648408.1:c.2424A>G | ||
| ENST00000262407.5:c.3110A>G | ENSP00000262407.5:p.Glu1037Gly | |
| ENST00000587295.5:c.303A>G | ||
| ENST00000588098.1:c.87A>G | ||
| NM_000419.3:c.3110A>G , LRG_479t1:c.3110A>G | NP_000410.2:p.Glu1037Gly | |
| XM_011524749.1:c.3008A>G | XP_011523051.1:p.Glu1003Gly | |
| XM_011524750.1:c.2993A>G | XP_011523052.1:p.Glu998Gly | |
| NM_000419.4:c.3110A>G | NP_000410.2:p.Glu1037Gly | |
| NM_000419.5:c.3110A>G MANE Select | NP_000410.2:p.Glu1037Gly |