Linked Data
dbSNP Id:
rs763166772
ExAC:
12:103240638 A / G
gnomAD v2:
12-103240638-A-G
gnomAD v3:
12-102846860-A-G
gnomAD v4:
12-102846860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846860A>G , CM000674.2:g.102846860A>G | GRCh38 |
| NC_000012.11:g.103240638A>G , CM000674.1:g.103240638A>G | GRCh37 |
| NC_000012.10:g.101764768A>G | NCBI36 |
| NG_008690.1:g.75743T>C | |
| NG_008690.2:g.116551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969+35T>C MANE Select | ENSP00000448059.1:n.969+35T>C | |
| ENST00000307000.7:c.954+35T>C | ENSP00000303500.2:n.954+35T>C | |
| ENST00000549247.6:n.728+35T>C | ||
| ENST00000551114.2:n.631+35T>C | ||
| ENST00000553106.5:c.969+35T>C | ENSP00000448059.1:n.969+35T>C | |
| ENST00000635477.1:c.74-2429T>C | ||
| ENST00000635528.1:n.484+35T>C | ||
| NM_000277.1:c.969+35T>C | NP_000268.1:n.969+35T>C | |
| XM_011538422.1:c.913-2429T>C | XP_011536724.1:n.913-2429T>C | |
| NM_000277.2:c.969+35T>C | NP_000268.1:n.969+35T>C | |
| NM_001354304.1:c.969+35T>C | NP_001341233.1:n.969+35T>C | |
| NM_000277.3:c.969+35T>C MANE Select | NP_000268.1:n.969+35T>C | |
| NM_001354304.2:c.969+35T>C | NP_001341233.1:n.969+35T>C |