Linked Data
dbSNP Id:
rs13144232
gnomAD v2:
4-37647234-G-A
gnomAD v3:
4-37645612-G-A
gnomAD v4:
4-37645612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.37645612G>A , CM000666.2:g.37645612G>A | GRCh38 |
| NC_000004.11:g.37647234G>A , CM000666.1:g.37647234G>A | GRCh37 |
| NC_000004.10:g.37323629G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454158.7:c.385+1756C>T MANE Select | ENSP00000398778.2:n.385+1756C>T | |
| ENST00000314117.8:c.385+1756C>T | ENSP00000313385.4:n.385+1756C>T | |
| ENST00000454158.6:c.385+1756C>T | ENSP00000398778.2:n.385+1756C>T | |
| ENST00000512114.1:c.448+1756C>T | ENSP00000424031.1:n.448+1756C>T | |
| NM_001085399.1:c.385+1756C>T | NP_001078868.1:n.385+1756C>T | |
| NM_001085400.1:c.385+1756C>T | NP_001078869.1:n.385+1756C>T | |
| XR_427509.1:n.475+1756C>T | ||
| XR_925167.1:n.475+1756C>T | ||
| XR_925168.1:n.475+1756C>T | ||
| XR_925169.1:n.475+1756C>T | ||
| XR_925170.1:n.475+1756C>T | ||
| XM_017008590.2:c.4+1596C>T | XP_016864079.1:n.4+1596C>T | |
| XR_002959758.1:n.661+1596C>T | ||
| NM_001085400.2:c.385+1756C>T MANE Select | NP_001078869.1:n.385+1756C>T | |
| NM_001085399.2:c.385+1756C>T | NP_001078868.1:n.385+1756C>T |