Linked Data
dbSNP Id:
rs1294200853
gnomAD v2:
3-128780697-A-G
gnomAD v3:
3-129061854-A-G
gnomAD v4:
3-129061854-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061854A>G , CM000665.2:g.129061854A>G | GRCh38 |
| NC_000003.11:g.128780697A>G , CM000665.1:g.128780697A>G | GRCh37 |
| NC_000003.10:g.130263387A>G | NCBI36 |
| NG_008715.1:g.6053A>G , LRG_477:g.6053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.115A>G MANE Select | ENSP00000303942.4:p.Arg39Gly | |
| ENST00000307395.4:c.115A>G | ENSP00000303942.4:p.Arg39Gly | |
| NM_000174.4:c.115A>G , LRG_477t1:c.115A>G | NP_000165.1:p.Arg39Gly | |
| XM_005247374.3:c.115A>G | XP_005247431.1:p.Arg39Gly | |
| XM_011512701.1:c.115A>G | XP_011511003.1:p.Arg39Gly | |
| XM_011512702.1:c.115A>G | XP_011511004.1:p.Arg39Gly | |
| NM_000174.5:c.115A>G MANE Select | NP_000165.1:p.Arg39Gly |