Linked Data
dbSNP Id:
rs372661168
ExAC:
7:75933079 T / G
gnomAD v2:
7-75933079-T-G
gnomAD v4:
7-76303762-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303762T>G , CM000669.2:g.76303762T>G | GRCh38 |
| NC_000007.13:g.75933079T>G , CM000669.1:g.75933079T>G | GRCh37 |
| NC_000007.12:g.75771015T>G | NCBI36 |
| NG_008995.1:g.6205T>G , LRG_248:g.6205T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.365-40T>G MANE Select | ENSP00000248553.6:n.365-40T>G | |
| ENST00000674547.1:c.365-40T>G | ENSP00000502461.1:n.365-40T>G | |
| ENST00000674638.1:c.365-45T>G | ENSP00000502651.1:n.365-45T>G | |
| ENST00000674650.1:c.365-222T>G | ENSP00000501628.1:n.365-222T>G | |
| ENST00000674965.1:c.365-15T>G | ENSP00000501765.1:n.365-15T>G | |
| ENST00000675134.1:c.365-40T>G | ENSP00000501831.1:n.365-40T>G | |
| ENST00000675226.1:c.369-45T>G | ENSP00000502510.1:n.369-45T>G | |
| ENST00000675417.1:n.558T>G | ||
| ENST00000675538.1:c.400-40T>G | ENSP00000502495.1:n.400-40T>G | |
| ENST00000675733.1:n.405T>G | ||
| ENST00000675906.1:c.365-40T>G | ENSP00000502714.1:n.365-40T>G | |
| ENST00000676195.1:n.81-40T>G | ||
| ENST00000676231.1:c.394+35T>G | ENSP00000502249.1:n.394+35T>G | |
| ENST00000248553.6:c.365-40T>G | ENSP00000248553.6:n.365-40T>G | |
| ENST00000429938.1:c.-141+35T>G | ENSP00000405285.1:n.-141+35T>G | |
| ENST00000447574.1:c.*489T>G | ENSP00000414357.1:n.*489T>G | |
| NM_001540.3:c.365-40T>G , LRG_248t1:c.365-40T>G | NP_001531.1:n.365-40T>G | |
| NM_001540.4:c.365-40T>G | NP_001531.1:n.365-40T>G | |
| NM_001540.5:c.365-40T>G MANE Select | NP_001531.1:n.365-40T>G |