Linked Data
dbSNP Id:
rs1267791643
gnomAD v2:
21-45753006-C-G
gnomAD v3:
21-44333123-C-G
gnomAD v4:
21-44333123-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333123C>G , CM000683.2:g.44333123C>G | GRCh38 |
| NC_000021.8:g.45753006C>G , CM000683.1:g.45753006C>G | GRCh37 |
| NC_000021.7:g.44577434C>G | NCBI36 |
| NG_032952.1:g.11280G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.283G>C MANE Select | ENSP00000344566.4:p.Ala95Pro | |
| ENST00000325223.7:c.283G>C | ENSP00000317302.7:p.Ala95Pro | |
| ENST00000339818.8:c.283G>C | ENSP00000344566.4:p.Ala95Pro | |
| ENST00000397956.7:c.283G>C | ENSP00000381047.3:p.Ala95Pro | |
| ENST00000462742.1:n.2454G>C | ||
| ENST00000478674.1:n.342G>C | ||
| ENST00000496321.5:n.399G>C | ||
| NM_001271440.1:c.283G>C | NP_001258369.1:p.Ala95Pro | |
| NM_001271441.1:c.283G>C | NP_001258370.1:p.Ala95Pro | |
| NM_001271442.1:c.160G>C | NP_001258371.1:p.Ala54Pro | |
| NM_004928.2:c.283G>C | NP_004919.1:p.Ala95Pro | |
| XM_006724051.2:c.358G>C | XP_006724114.1:p.Ala120Pro | |
| XM_006724052.2:c.358G>C | XP_006724115.1:p.Ala120Pro | |
| XM_006724053.2:c.-42G>C | XP_006724116.1:n.-42G>C | |
| XR_937571.1:n.486G>C | ||
| XM_006724051.3:c.358G>C | XP_006724114.1:p.Ala120Pro | |
| XM_006724053.3:c.-42G>C | XP_006724116.1:n.-42G>C | |
| XM_017028470.1:c.487G>C | XP_016883959.1:p.Ala163Pro | |
| XM_017028471.1:c.232G>C | XP_016883960.1:p.Ala78Pro | |
| XM_017028472.1:c.-42G>C | XP_016883961.1:n.-42G>C | |
| XR_937571.2:n.493G>C | ||
| NM_004928.3:c.283G>C MANE Select | NP_004919.1:p.Ala95Pro | |
| NM_001271440.2:c.283G>C | NP_001258369.1:p.Ala95Pro | |
| NM_001271441.2:c.283G>C | NP_001258370.1:p.Ala95Pro |