Linked Data
dbSNP Id:
rs6498142
gnomAD v2:
16-11081249-C-G
gnomAD v3:
16-10987392-C-G
gnomAD v4:
16-10987392-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10987392C>G , CM000678.2:g.10987392C>G | GRCh38 |
| NC_000016.9:g.11081249C>G , CM000678.1:g.11081249C>G | GRCh37 |
| NC_000016.8:g.10988750C>G | NCBI36 |
| NG_016757.1:g.47905C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703130.1:c.1065+4401C>G | ENSP00000515187.1:n.1065+4401C>G | |
| ENST00000409790.6:c.1071+4401C>G MANE Select | ENSP00000387122.1:n.1071+4401C>G | |
| ENST00000409552.4:c.1065+4401C>G | ENSP00000386495.3:n.1065+4401C>G | |
| ENST00000409790.5:c.1071+4401C>G | ENSP00000387122.1:n.1071+4401C>G | |
| ENST00000494853.1:n.546+4401C>G | ||
| NM_001243403.1:c.1065+4401C>G | NP_001230332.1:n.1065+4401C>G | |
| NM_015226.2:c.1071+4401C>G | NP_056041.1:n.1071+4401C>G | |
| XM_005255210.1:c.1065+4401C>G | XP_005255267.1:n.1065+4401C>G | |
| XM_005255211.1:c.1071+4401C>G | XP_005255268.1:n.1071+4401C>G | |
| XM_005255213.1:c.1065+4401C>G | XP_005255270.1:n.1065+4401C>G | |
| XM_005255214.1:c.1071+4401C>G | XP_005255271.1:n.1071+4401C>G | |
| XM_005255215.3:c.1071+4401C>G | XP_005255272.1:n.1071+4401C>G | |
| XM_005255216.1:c.1071+4401C>G | XP_005255273.1:n.1071+4401C>G | |
| XM_006720870.2:c.1071+4401C>G | XP_006720933.1:n.1071+4401C>G | |
| XM_011522434.1:c.1071+4401C>G | XP_011520736.1:n.1071+4401C>G | |
| XM_011522435.1:c.1071+4401C>G | XP_011520737.1:n.1071+4401C>G | |
| XM_011522436.1:c.1071+4401C>G | XP_011520738.1:n.1071+4401C>G | |
| XM_011522437.1:c.1071+4401C>G | XP_011520739.1:n.1071+4401C>G | |
| XM_011522438.1:c.1071+4401C>G | XP_011520740.1:n.1071+4401C>G | |
| XM_011522439.1:c.1071+4401C>G | XP_011520741.1:n.1071+4401C>G | |
| XM_011522440.1:c.1071+4401C>G | XP_011520742.1:n.1071+4401C>G | |
| XR_932810.1:n.1295+4401C>G | ||
| XM_005255210.2:c.1065+4401C>G | XP_005255267.1:n.1065+4401C>G | |
| XM_005255211.2:c.1071+4401C>G | XP_005255268.1:n.1071+4401C>G | |
| XM_005255213.2:c.1065+4401C>G | XP_005255270.1:n.1065+4401C>G | |
| XM_005255214.2:c.1071+4401C>G | XP_005255271.1:n.1071+4401C>G | |
| XM_005255215.4:c.1071+4401C>G | XP_005255272.1:n.1071+4401C>G | |
| XM_005255216.2:c.1071+4401C>G | XP_005255273.1:n.1071+4401C>G | |
| XM_006720870.4:c.1071+4401C>G | XP_006720933.1:n.1071+4401C>G | |
| XM_011522434.2:c.1071+4401C>G | XP_011520736.1:n.1071+4401C>G | |
| XM_011522435.2:c.1071+4401C>G | XP_011520737.1:n.1071+4401C>G | |
| XM_011522436.3:c.1071+4401C>G | XP_011520738.1:n.1071+4401C>G | |
| XM_011522437.3:c.1071+4401C>G | XP_011520739.1:n.1071+4401C>G | |
| XM_011522438.3:c.1071+4401C>G | XP_011520740.1:n.1071+4401C>G | |
| XM_011522439.3:c.1071+4401C>G | XP_011520741.1:n.1071+4401C>G | |
| XM_011522440.3:c.1071+4401C>G | XP_011520742.1:n.1071+4401C>G | |
| XM_017023089.2:c.1065+4401C>G | XP_016878578.1:n.1065+4401C>G | |
| XM_024450218.1:c.1071+4401C>G | XP_024305986.1:n.1071+4401C>G | |
| XR_932810.3:n.1250+4401C>G | ||
| NM_015226.3:c.1071+4401C>G MANE Select | NP_056041.1:n.1071+4401C>G | |
| NM_001243403.2:c.1065+4401C>G | NP_001230332.1:n.1065+4401C>G |