Linked Data
dbSNP Id:
rs1013292931
gnomAD v2:
5-147486882-A-C
gnomAD v3:
5-148107319-A-C
gnomAD v4:
5-148107319-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107319A>C , CM000667.2:g.148107319A>C | GRCh38 |
| NC_000005.9:g.147486882A>C , CM000667.1:g.147486882A>C | GRCh37 |
| NC_000005.8:g.147467075A>C | NCBI36 |
| NG_009633.1:g.48348A>C , LRG_110:g.48348A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.1216+155A>C | ||
| ENST00000256084.8:c.1607+155A>C MANE Select | ENSP00000256084.7:n.1607+155A>C | |
| ENST00000256084.7:c.1607+155A>C | ENSP00000256084.7:n.1607+155A>C | |
| ENST00000359874.7:c.1607+155A>C | ENSP00000352936.3:n.1607+155A>C | |
| ENST00000398454.5:c.1607+155A>C | ENSP00000381472.1:n.1607+155A>C | |
| ENST00000507988.5:n.1771+155A>C | ||
| ENST00000508733.5:c.1550+155A>C | ENSP00000421519.1:n.1550+155A>C | |
| NM_001127698.1:c.1607+155A>C | NP_001121170.1:n.1607+155A>C | |
| NM_001127699.1:c.1607+155A>C | NP_001121171.1:n.1607+155A>C | |
| NM_006846.3:c.1607+155A>C , LRG_110t1:c.1607+155A>C | NP_006837.2:n.1607+155A>C | |
| XM_011537550.1:c.1550+155A>C | XP_011535852.1:n.1550+155A>C | |
| XM_011537551.1:c.1523+155A>C | XP_011535853.1:n.1523+155A>C | |
| XM_011537551.2:c.1523+155A>C | XP_011535853.1:n.1523+155A>C | |
| NM_001127698.2:c.1607+155A>C | NP_001121170.1:n.1607+155A>C | |
| NM_001127699.2:c.1607+155A>C | NP_001121171.1:n.1607+155A>C | |
| NM_006846.4:c.1607+155A>C MANE Select | NP_006837.2:n.1607+155A>C |