Linked Data
dbSNP Id:
rs11022095
gnomAD v2:
11-11986927-A-G
gnomAD v3:
11-11965380-A-G
gnomAD v4:
11-11965380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.11965380A>G , CM000673.2:g.11965380A>G | GRCh38 |
| NC_000011.9:g.11986927A>G , CM000673.1:g.11986927A>G | GRCh37 |
| NC_000011.8:g.11943503A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683431.1:c.830+429T>C MANE Select | ENSP00000506835.1:n.830+429T>C | |
| ENST00000396505.7:c.830+429T>C | ENSP00000379762.2:n.830+429T>C | |
| ENST00000326932.8:c.830+429T>C | ENSP00000314910.4:n.830+429T>C | |
| ENST00000396505.6:c.830+429T>C | ENSP00000379762.2:n.830+429T>C | |
| ENST00000525493.5:c.830+429T>C | ENSP00000433112.1:n.830+429T>C | |
| ENST00000527132.1:n.262-911T>C | ||
| ENST00000528188.5:n.494+429T>C | ||
| NM_001018057.1:c.830+429T>C | NP_001018067.1:n.830+429T>C | |
| NM_013253.4:c.830+429T>C | NP_037385.2:n.830+429T>C | |
| NM_015881.5:c.830+429T>C | NP_056965.3:n.830+429T>C | |
| XM_006718178.2:c.830+429T>C | XP_006718241.1:n.830+429T>C | |
| NM_001330220.1:c.830+429T>C | NP_001317149.1:n.830+429T>C | |
| XM_017017554.2:c.830+429T>C | XP_016873043.1:n.830+429T>C | |
| XM_017017555.1:c.830+429T>C | XP_016873044.1:n.830+429T>C | |
| XM_024448441.1:c.308+429T>C | XP_024304209.1:n.308+429T>C | |
| NM_001330220.2:c.830+429T>C | NP_001317149.1:n.830+429T>C | |
| NM_001018057.2:c.830+429T>C MANE Select | NP_001018067.1:n.830+429T>C | |
| NM_001330220.3:c.830+429T>C | NP_001317149.1:n.830+429T>C | |
| NM_013253.5:c.830+429T>C | NP_037385.2:n.830+429T>C | |
| NM_015881.6:c.830+429T>C | NP_056965.3:n.830+429T>C |