Linked Data
dbSNP Id:
rs2273669
gnomAD v2:
6-109285189-A-G
gnomAD v3:
6-108963986-A-G
gnomAD v4:
6-108963986-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108963986A>G , CM000668.2:g.108963986A>G | GRCh38 |
| NC_000006.11:g.109285189A>G , CM000668.1:g.109285189A>G | GRCh37 |
| NC_000006.10:g.109391882A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392644.9:c.2153-194A>G MANE Select | ENSP00000376417.4:n.2153-194A>G | |
| ENST00000368972.7:c.1658-194A>G | ENSP00000357968.3:n.1658-194A>G | |
| ENST00000392644.8:c.2153-194A>G | ENSP00000376417.4:n.2153-194A>G | |
| ENST00000481850.1:n.298-194A>G | ||
| NM_001286609.1:c.1658-194A>G | NP_001273538.1:n.1658-194A>G | |
| NM_032131.5:c.2153-194A>G | NP_115507.4:n.2153-194A>G | |
| XM_005267154.2:c.2153-194A>G | XP_005267211.1:n.2153-194A>G | |
| XM_005267155.2:c.2153-194A>G | XP_005267212.1:n.2153-194A>G | |
| XM_005267157.2:c.1658-194A>G | XP_005267214.1:n.1658-194A>G | |
| XM_006715573.2:c.2153-194A>G | XP_006715636.1:n.2153-194A>G | |
| XM_006715574.2:c.1658-194A>G | XP_006715637.1:n.1658-194A>G | |
| XM_011536166.1:c.2153-194A>G | XP_011534468.1:n.2153-194A>G | |
| XM_011536167.1:c.2036-194A>G | XP_011534469.1:n.2036-194A>G | |
| XM_011536168.1:c.2153-194A>G | XP_011534470.1:n.2153-194A>G | |
| XM_011536169.1:c.2153-194A>G | XP_011534471.1:n.2153-194A>G | |
| XM_011536170.1:c.2153-194A>G | XP_011534472.1:n.2153-194A>G | |
| XM_011536171.1:c.1826-194A>G | XP_011534473.1:n.1826-194A>G | |
| XM_011536172.1:c.1658-194A>G | XP_011534474.1:n.1658-194A>G | |
| XM_011536174.1:c.1412-194A>G | XP_011534476.1:n.1412-194A>G | |
| XM_005267154.4:c.2153-194A>G | XP_005267211.1:n.2153-194A>G | |
| XM_005267157.3:c.1658-194A>G | XP_005267214.1:n.1658-194A>G | |
| XM_011536168.3:c.2153-194A>G | XP_011534470.1:n.2153-194A>G | |
| XM_011536170.2:c.2153-194A>G | XP_011534472.1:n.2153-194A>G | |
| XM_011536172.2:c.1658-194A>G | XP_011534474.1:n.1658-194A>G | |
| XM_017011350.1:c.1412-194A>G | XP_016866839.1:n.1412-194A>G | |
| XM_024446568.1:c.1658-194A>G | XP_024302336.1:n.1658-194A>G | |
| NM_032131.6:c.2153-194A>G MANE Select | NP_115507.4:n.2153-194A>G | |
| NM_001286609.2:c.1658-194A>G | NP_001273538.1:n.1658-194A>G |