Linked Data
dbSNP Id:
rs747844512
ExAC:
5:1294864 C / A
gnomAD v2:
5-1294864-C-A
gnomAD v4:
5-1294749-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294749C>A , CM000667.2:g.1294749C>A | GRCh38 |
| NC_000005.9:g.1294864C>A , CM000667.1:g.1294864C>A | GRCh37 |
| NC_000005.8:g.1347864C>A | NCBI36 |
| NG_009265.1:g.5299G>T , LRG_343:g.5299G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.219+22G>T MANE Select | ENSP00000309572.5:n.219+22G>T | |
| ENST00000656021.1:c.219+22G>T | ENSP00000499759.1:n.219+22G>T | |
| ENST00000310581.9:c.219+22G>T | ENSP00000309572.5:n.219+22G>T | |
| ENST00000334602.10:c.219+22G>T | ENSP00000334346.6:n.219+22G>T | |
| ENST00000460137.6:c.219+22G>T | ENSP00000425003.1:n.219+22G>T | |
| ENST00000508104.2:c.219+22G>T | ENSP00000426042.2:n.219+22G>T | |
| ENST00000522877.1:n.299+22G>T | ||
| NM_001193376.1:c.219+22G>T | NP_001180305.1:n.219+22G>T | |
| NM_198253.2:c.219+22G>T , LRG_343t1:c.219+22G>T | NP_937983.2:n.219+22G>T | |
| NR_149162.1:n.277+22G>T | ||
| NR_149163.1:n.277+22G>T | ||
| NM_001193376.2:c.219+22G>T | NP_001180305.1:n.219+22G>T | |
| NM_198253.3:c.219+22G>T MANE Select | NP_937983.2:n.219+22G>T | |
| NR_149162.2:n.298+22G>T | ||
| NR_149163.2:n.298+22G>T | ||
| NM_001193376.3:c.219+22G>T | NP_001180305.1:n.219+22G>T | |
| NR_149162.3:n.298+22G>T | ||
| NR_149163.3:n.298+22G>T |