Linked Data
dbSNP Id:
rs2504106
gnomAD v2:
6-39822119-A-G
gnomAD v3:
6-39854343-A-G
gnomAD v4:
6-39854343-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39854343A>G , CM000668.2:g.39854343A>G | GRCh38 |
| NC_000006.11:g.39822119A>G , CM000668.1:g.39822119A>G | GRCh37 |
| NC_000006.10:g.39930097A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274867.9:c.-56-1904A>G MANE Select | ENSP00000274867.4:n.-56-1904A>G | |
| ENST00000274867.8:c.-56-1904A>G | ENSP00000274867.4:n.-56-1904A>G | |
| ENST00000398904.6:c.-56-1904A>G | ENSP00000381876.2:n.-56-1904A>G | |
| ENST00000405961.3:c.-56-1904A>G | ENSP00000384637.3:n.-56-1904A>G | |
| ENST00000475489.5:n.71-1904A>G | ||
| ENST00000491083.2:n.91-1904A>G | ||
| ENST00000494405.2:c.-56-1904A>G | ENSP00000488196.1:n.-56-1904A>G | |
| ENST00000538976.5:c.-56-1904A>G | ENSP00000437808.1:n.-56-1904A>G | |
| ENST00000633794.1:c.-56-1904A>G | ENSP00000488831.1:n.-56-1904A>G | |
| NM_001201427.1:c.-56-1904A>G | NP_001188356.1:n.-56-1904A>G | |
| NM_015345.3:c.-56-1904A>G | NP_056160.2:n.-56-1904A>G | |
| XM_006715039.2:c.86-1904A>G | XP_006715102.2:n.86-1904A>G | |
| XM_006715040.2:c.86-1904A>G | XP_006715103.2:n.86-1904A>G | |
| XM_006715042.1:c.-56-1904A>G | XP_006715105.1:n.-56-1904A>G | |
| XM_006715043.1:c.-56-1904A>G | XP_006715106.1:n.-56-1904A>G | |
| XM_006715044.2:c.-56-1904A>G | XP_006715107.1:n.-56-1904A>G | |
| XM_006715045.2:c.-56-1904A>G | XP_006715108.1:n.-56-1904A>G | |
| XM_006715046.2:c.-56-1904A>G | XP_006715109.1:n.-56-1904A>G | |
| XM_011514447.1:c.14-1904A>G | XP_011512749.1:n.14-1904A>G | |
| XM_006715039.3:c.242-1904A>G | XP_006715102.3:n.242-1904A>G | |
| XM_006715040.3:c.242-1904A>G | XP_006715103.3:n.242-1904A>G | |
| XM_006715042.2:c.-56-1904A>G | XP_006715105.1:n.-56-1904A>G | |
| XM_006715043.2:c.-56-1904A>G | XP_006715106.1:n.-56-1904A>G | |
| XM_006715045.3:c.-56-1904A>G | XP_006715108.1:n.-56-1904A>G | |
| XM_006715046.4:c.-56-1904A>G | XP_006715109.1:n.-56-1904A>G | |
| XM_017010630.1:c.14-1904A>G | XP_016866119.1:n.14-1904A>G | |
| NM_001201427.2:c.-56-1904A>G MANE Select | NP_001188356.1:n.-56-1904A>G | |
| NM_015345.4:c.-56-1904A>G | NP_056160.2:n.-56-1904A>G |