Linked Data
dbSNP Id:
rs969130739
gnomAD v2:
7-92146477-T-C
gnomAD v3:
7-92517163-T-C
gnomAD v4:
7-92517163-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517163T>C , CM000669.2:g.92517163T>C | GRCh38 |
| NC_000007.13:g.92146477T>C , CM000669.1:g.92146477T>C | GRCh37 |
| NC_000007.12:g.91984413T>C | NCBI36 |
| NG_008341.1:g.16369A>G | |
| NG_008341.2:g.16369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1239+113A>G MANE Select | ENSP00000248633.4:n.1239+113A>G | |
| ENST00000248633.8:c.1239+113A>G | ENSP00000248633.4:n.1239+113A>G | |
| ENST00000422866.1:c.140+113A>G | ||
| ENST00000428214.5:c.1239+113A>G | ENSP00000394413.1:n.1239+113A>G | |
| ENST00000438045.5:c.274-3196A>G | ENSP00000410438.1:n.274-3196A>G | |
| ENST00000484913.5:n.1278+113A>G | ||
| NM_000466.2:c.1239+113A>G | NP_000457.1:n.1239+113A>G | |
| NM_001282677.1:c.1239+113A>G | NP_001269606.1:n.1239+113A>G | |
| NM_001282678.1:c.615+113A>G | NP_001269607.1:n.615+113A>G | |
| XR_242246.3:n.1335+113A>G | ||
| XM_017012319.2:c.-428+113A>G | XP_016867808.1:n.-428+113A>G | |
| XR_001744808.2:n.349+113A>G | ||
| XR_242246.5:n.1286+113A>G | ||
| NM_000466.3:c.1239+113A>G MANE Select | NP_000457.1:n.1239+113A>G | |
| NM_001282677.2:c.1239+113A>G | NP_001269606.1:n.1239+113A>G | |
| NM_001282678.2:c.615+113A>G | NP_001269607.1:n.615+113A>G |