Linked Data
dbSNP Id:
rs1559984162
gnomAD v2:
3-128780598-G-A
gnomAD v3:
3-129061755-G-A
gnomAD v4:
3-129061755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061755G>A , CM000665.2:g.129061755G>A | GRCh38 |
| NC_000003.11:g.128780598G>A , CM000665.1:g.128780598G>A | GRCh37 |
| NC_000003.10:g.130263288G>A | NCBI36 |
| NG_008715.1:g.5954G>A , LRG_477:g.5954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307395.5:c.16G>A MANE Select | ENSP00000303942.4:p.Ala6Thr | |
| ENST00000307395.4:c.16G>A | ENSP00000303942.4:p.Ala6Thr | |
| NM_000174.4:c.16G>A , LRG_477t1:c.16G>A | NP_000165.1:p.Ala6Thr | |
| XM_005247374.3:c.16G>A | XP_005247431.1:p.Ala6Thr | |
| XM_011512701.1:c.16G>A | XP_011511003.1:p.Ala6Thr | |
| XM_011512702.1:c.16G>A | XP_011511004.1:p.Ala6Thr | |
| NM_000174.5:c.16G>A MANE Select | NP_000165.1:p.Ala6Thr |