Linked Data
dbSNP Id:
rs10437629
gnomAD v2:
11-33588210-A-G
gnomAD v3:
11-33566664-A-G
gnomAD v4:
11-33566664-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.33566664A>G , CM000673.2:g.33566664A>G | GRCh38 |
| NC_000011.9:g.33588210A>G , CM000673.1:g.33588210A>G | GRCh37 |
| NC_000011.8:g.33544786A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526400.7:c.1889-1412A>G | ENSP00000433481.3:n.1889-1412A>G | |
| ENST00000265654.6:c.3330-1412A>G | ||
| ENST00000321505.9:c.3188-1412A>G | ENSP00000315295.4:n.3188-1412A>G | |
| ENST00000526400.6:c.1889-1412A>G | ENSP00000433481.2:n.1889-1412A>G | |
| ENST00000658780.2:c.4079-1412A>G MANE Select | ENSP00000499430.1:n.4079-1412A>G | |
| ENST00000265654.5:c.3206-1412A>G | ENSP00000265654.5:n.3206-1412A>G | |
| ENST00000321505.8:c.3188-1412A>G | ENSP00000315295.4:n.3188-1412A>G | |
| ENST00000526400.5:c.1381-1412A>G | ||
| NM_012194.2:c.3188-1412A>G | NP_036326.2:n.3188-1412A>G | |
| XM_005252847.2:c.3323-1412A>G | XP_005252904.2:n.3323-1412A>G | |
| XM_005252848.2:c.3206-1412A>G | XP_005252905.1:n.3206-1412A>G | |
| XM_011519969.1:c.3206-1412A>G | XP_011518271.1:n.3206-1412A>G | |
| XM_011519970.1:c.1889-1412A>G | XP_011518272.1:n.1889-1412A>G | |
| XM_005252847.3:c.3323-1412A>G | XP_005252904.2:n.3323-1412A>G | |
| XM_005252848.3:c.3206-1412A>G | XP_005252905.1:n.3206-1412A>G | |
| XM_011519969.2:c.3206-1412A>G | XP_011518271.1:n.3206-1412A>G | |
| XM_011519970.2:c.1889-1412A>G | XP_011518272.1:n.1889-1412A>G | |
| XM_017017484.2:c.3206-1412A>G | XP_016872973.1:n.3206-1412A>G | |
| XM_017017486.1:c.1889-1412A>G | XP_016872975.1:n.1889-1412A>G | |
| NM_012194.3:c.4079-1412A>G MANE Select | NP_036326.3:n.4079-1412A>G |