Linked Data
dbSNP Id:
rs2228093
gnomAD v2:
9-38396002-C-G
gnomAD v3:
9-38396005-C-G
gnomAD v4:
9-38396005-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396005C>G , CM000671.2:g.38396005C>G | GRCh38 |
| NC_000009.11:g.38396002C>G , CM000671.1:g.38396002C>G | GRCh37 |
| NC_000009.10:g.38386002C>G | NCBI36 |
| NG_012253.1:g.8301C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377698.4:c.257C>G MANE Select | ENSP00000366927.3:p.Ala86Gly | |
| ENST00000377698.3:c.257C>G | ENSP00000366927.3:p.Ala86Gly | |
| ENST00000635162.1:c.257C>G | ENSP00000489053.1:p.Ala86Gly | |
| NM_000692.4:c.257C>G | NP_000683.3:p.Ala86Gly | |
| XM_011517802.1:c.257C>G | XP_011516104.1:p.Ala86Gly | |
| XM_011517802.2:c.257C>G | XP_011516104.1:p.Ala86Gly | |
| NM_000692.5:c.257C>G MANE Select | NP_000683.3:p.Ala86Gly |