Linked Data
dbSNP Id:
rs121908824
ExAC:
2:96920700 G / C
gnomAD v2:
2-96920700-G-C
gnomAD v4:
2-96254962-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254962G>C , CM000664.2:g.96254962G>C | GRCh38 |
| NC_000002.11:g.96920700G>C , CM000664.1:g.96920700G>C | GRCh37 |
| NC_000002.10:g.96284427G>C | NCBI36 |
| NG_027695.1:g.16052C>G , LRG_528:g.16052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.280C>G MANE Select | ENSP00000258439.3:p.Arg94Gly | |
| ENST00000258439.7:c.280C>G | ENSP00000258439.2:p.Arg94Gly | |
| ENST00000432959.1:c.280C>G | ENSP00000416660.1:p.Arg94Gly | |
| ENST00000435268.1:c.28C>G | ENSP00000411810.1:p.Arg10Gly | |
| NM_001193304.2:c.280C>G | NP_001180233.1:p.Arg94Gly | |
| NM_017849.3:c.280C>G , LRG_528t1:c.280C>G | NP_060319.1:p.Arg94Gly | |
| XM_017004450.1:c.-639C>G | XP_016859939.1:n.-639C>G | |
| XM_017004452.1:c.28C>G | XP_016859941.1:p.Arg10Gly | |
| NM_001193304.3:c.280C>G | NP_001180233.1:p.Arg94Gly | |
| NM_017849.4:c.280C>G MANE Select | NP_060319.1:p.Arg94Gly |