Linked Data
dbSNP Id:
rs13413635
gnomAD v2:
2-178680431-A-G
gnomAD v3:
2-177815704-A-G
gnomAD v4:
2-177815704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177815704A>G , CM000664.2:g.177815704A>G | GRCh38 |
| NC_000002.11:g.178680431A>G , CM000664.1:g.178680431A>G | GRCh37 |
| NC_000002.10:g.178388677A>G | NCBI36 |
| NG_012168.1:g.297636T>C | |
| NG_012168.2:g.297636T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286063.11:c.1737+1125T>C MANE Select | ENSP00000286063.5:n.1737+1125T>C | |
| ENST00000286063.10:c.1737+1125T>C | ENSP00000286063.5:n.1737+1125T>C | |
| ENST00000358450.8:c.987+1125T>C | ENSP00000351232.4:n.987+1125T>C | |
| ENST00000389683.7:c.405+1125T>C | ENSP00000374333.3:n.405+1125T>C | |
| ENST00000409504.5:c.663+1125T>C | ENSP00000386539.1:n.663+1125T>C | |
| ENST00000433879.1:c.560+2154T>C | ||
| ENST00000492761.1:n.593+1125T>C | ||
| ENST00000497003.5:n.779+1125T>C | ||
| NM_001077196.1:c.405+1125T>C | NP_001070664.1:n.405+1125T>C | |
| NM_001077197.1:c.987+1125T>C | NP_001070665.1:n.987+1125T>C | |
| NM_001077358.1:c.663+1125T>C | NP_001070826.1:n.663+1125T>C | |
| NM_016953.3:c.1737+1125T>C | NP_058649.3:n.1737+1125T>C | |
| NM_016953.4:c.1737+1125T>C MANE Select | NP_058649.3:n.1737+1125T>C | |
| NM_001077196.2:c.405+1125T>C | NP_001070664.1:n.405+1125T>C | |
| NM_001077197.2:c.987+1125T>C | NP_001070665.1:n.987+1125T>C | |
| NM_001077358.2:c.663+1125T>C | NP_001070826.1:n.663+1125T>C |