Linked Data
dbSNP Id:
rs2291418
ExAC:
5:179225324 G / A
gnomAD v2:
5-179225324-G-A
gnomAD v3:
5-179798324-G-A
gnomAD v4:
5-179798324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179798324G>A , CM000667.2:g.179798324G>A | GRCh38 |
| NC_000005.9:g.179225324G>A , CM000667.1:g.179225324G>A | GRCh37 |
| NC_000005.8:g.179157930G>A | NCBI36 |
| NG_028161.1:g.9339G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292591.12:c.1510+23C>T (MGAT4B) MANE Select | ENSP00000292591.7:n.1510+23C>T | |
| ENST00000292591.11:c.1510+23C>T (MGAT4B) | ENSP00000292591.7:n.1510+23C>T | |
| ENST00000337755.9:c.1555+23C>T (MGAT4B) | ENSP00000338487.5:n.1555+23C>T | |
| ENST00000518778.5:c.983+23C>T (MGAT4B) | ||
| ENST00000518980.5:c.747+23C>T (MGAT4B) | ||
| ENST00000519836.5:c.1114+23C>T (MGAT4B) | ||
| ENST00000520875.5:c.851+23C>T (MGAT4B) | ||
| ENST00000520969.5:c.585+23C>T (MGAT4B) | ||
| ENST00000522293.5:n.462-47C>T (MGAT4B) | ||
| ENST00000522451.5:n.411+23C>T (MGAT4B) | ||
| ENST00000523382.5:n.665+23C>T (MGAT4B) | ||
| NM_014275.4:c.1510+23C>T (MGAT4B) | NP_055090.1:n.1510+23C>T | |
| NM_054013.3:c.1555+23C>T (MGAT4B) | NP_463459.1:n.1555+23C>T | |
| NR_031598.1:n.23C>T (MIR1229) | ||
| XM_024454347.1:c.1510+23C>T (MGAT4B) | XP_024310115.1:n.1510+23C>T | |
| XM_024454348.1:c.1075+23C>T (MGAT4B) | XP_024310116.1:n.1075+23C>T | |
| XM_024454349.1:c.1075+23C>T (MGAT4B) | XP_024310117.1:n.1075+23C>T | |
| NM_014275.5:c.1510+23C>T (MGAT4B) MANE Select | NP_055090.1:n.1510+23C>T |