Linked Data
dbSNP Id:
rs1373512004
gnomAD v2:
8-61777977-A-G
gnomAD v3:
8-60865418-A-G
gnomAD v4:
8-60865418-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865418A>G , CM000670.2:g.60865418A>G | GRCh38 |
| NC_000008.10:g.61777977A>G , CM000670.1:g.61777977A>G | GRCh37 |
| NC_000008.9:g.61940531A>G | NCBI36 |
| NG_007009.1:g.191639A>G , LRG_176:g.191639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1655A>G | ||
| ENST00000695852.1:n.586A>G | ||
| ENST00000695853.1:c.*1538A>G | ENSP00000512218.1:n.*1538A>G | |
| ENST00000423902.7:c.8479A>G MANE Select | ENSP00000392028.1:p.Thr2827Ala | |
| ENST00000423902.6:c.8479A>G | ENSP00000392028.1:p.Thr2827Ala | |
| ENST00000524602.5:c.2332A>G | ENSP00000437061.1:p.Thr778Ala | |
| ENST00000528280.1:n.525A>G | ||
| NM_001316690.1:c.2332A>G | NP_001303619.1:p.Thr778Ala | |
| NM_017780.3:c.8479A>G | NP_060250.2:p.Thr2827Ala | |
| XM_011517553.1:c.8569A>G | XP_011515855.1:p.Thr2857Ala | |
| XM_011517554.1:c.8569A>G | XP_011515856.1:p.Thr2857Ala | |
| XM_011517555.1:c.8566A>G | XP_011515857.1:p.Thr2856Ala | |
| XM_011517556.1:c.8347A>G | XP_011515858.1:p.Thr2783Ala | |
| XM_011517557.1:c.6556A>G | XP_011515859.1:p.Thr2186Ala | |
| XM_011517558.1:c.6106A>G | XP_011515860.1:p.Thr2036Ala | |
| XM_011517559.1:c.5314A>G | XP_011515861.1:p.Thr1772Ala | |
| XM_011517553.2:c.8569A>G | XP_011515855.1:p.Thr2857Ala | |
| XM_011517554.3:c.8569A>G | XP_011515856.1:p.Thr2857Ala | |
| XM_011517555.2:c.8566A>G | XP_011515857.1:p.Thr2856Ala | |
| XM_017013612.1:c.8569A>G | XP_016869101.1:p.Thr2857Ala | |
| XM_017013613.1:c.8476A>G | XP_016869102.1:p.Thr2826Ala | |
| NM_017780.4:c.8479A>G MANE Select | NP_060250.2:p.Thr2827Ala |