Linked Data
dbSNP Id:
rs375189326
ExAC:
7:92146542 T / C
gnomAD v2:
7-92146542-T-C
gnomAD v3:
7-92517228-T-C
gnomAD v4:
7-92517228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517228T>C , CM000669.2:g.92517228T>C | GRCh38 |
| NC_000007.13:g.92146542T>C , CM000669.1:g.92146542T>C | GRCh37 |
| NC_000007.12:g.91984478T>C | NCBI36 |
| NG_008341.1:g.16304A>G | |
| NG_008341.2:g.16304A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1239+48A>G MANE Select | ENSP00000248633.4:n.1239+48A>G | |
| ENST00000248633.8:c.1239+48A>G | ENSP00000248633.4:n.1239+48A>G | |
| ENST00000422866.1:c.140+48A>G | ||
| ENST00000428214.5:c.1239+48A>G | ENSP00000394413.1:n.1239+48A>G | |
| ENST00000438045.5:c.274-3261A>G | ENSP00000410438.1:n.274-3261A>G | |
| ENST00000484913.5:n.1278+48A>G | ||
| NM_000466.2:c.1239+48A>G | NP_000457.1:n.1239+48A>G | |
| NM_001282677.1:c.1239+48A>G | NP_001269606.1:n.1239+48A>G | |
| NM_001282678.1:c.615+48A>G | NP_001269607.1:n.615+48A>G | |
| XR_242246.3:n.1335+48A>G | ||
| XM_017012319.2:c.-428+48A>G | XP_016867808.1:n.-428+48A>G | |
| XR_001744808.2:n.349+48A>G | ||
| XR_242246.5:n.1286+48A>G | ||
| NM_000466.3:c.1239+48A>G MANE Select | NP_000457.1:n.1239+48A>G | |
| NM_001282677.2:c.1239+48A>G | NP_001269606.1:n.1239+48A>G | |
| NM_001282678.2:c.615+48A>G | NP_001269607.1:n.615+48A>G |