Linked Data
ClinVar Variation Id:
768311
ClinVar RCV Id:
RCV000947187
dbSNP Id:
rs75984623
ExAC:
9:86903067 C / T
gnomAD v2:
9-86903067-C-T
gnomAD v3:
9-84288152-C-T
gnomAD v4:
9-84288152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84288152C>T , CM000671.2:g.84288152C>T | GRCh38 |
| NC_000009.11:g.86903067C>T , CM000671.1:g.86903067C>T | GRCh37 |
| NC_000009.10:g.86092887C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376238.5:c.1176G>A (SLC28A3) MANE Select | ENSP00000365413.4:p.Ala392= | |
| ENST00000376238.4:c.1176G>A (SLC28A3) | ENSP00000365413.4:p.Ala392= | |
| NM_001199633.1:c.1176G>A (SLC28A3) | NP_001186562.1:p.Ala392= | |
| NM_022127.2:c.1176G>A (SLC28A3) | NP_071410.1:p.Ala392= | |
| NR_037638.2:n.1498G>A (SLC28A3) | ||
| XM_011518905.1:c.1260G>A (SLC28A3) | XP_011517207.1:p.Ala420= | |
| XM_011518906.1:c.1260G>A (SLC28A3) | XP_011517208.1:p.Ala420= | |
| XM_011518907.1:c.927G>A (SLC28A3) | XP_011517209.1:p.Ala309= | |
| XM_011518908.1:c.537G>A (SLC28A3) | XP_011517210.1:p.Ala179= | |
| XR_929832.1:n.1387G>A (SLC28A3) | ||
| XR_930033.1:n.88-890C>T (SLC28A3-AS1) | ||
| XM_011518905.2:c.1260G>A (SLC28A3) | XP_011517207.1:p.Ala420= | |
| XM_011518906.2:c.1260G>A (SLC28A3) | XP_011517208.1:p.Ala420= | |
| XM_011518907.2:c.927G>A (SLC28A3) | XP_011517209.1:p.Ala309= | |
| XM_011518908.2:c.537G>A (SLC28A3) | XP_011517210.1:p.Ala179= | |
| XR_001746802.1:n.231-1788C>T (SLC28A3-AS1) | ||
| XR_001746803.1:n.85-890C>T (SLC28A3-AS1) | ||
| XR_929832.2:n.1392G>A (SLC28A3) | ||
| NM_001199633.2:c.1176G>A (SLC28A3) MANE Select | NP_001186562.1:p.Ala392= | |
| NM_022127.3:c.1176G>A (SLC28A3) | NP_071410.1:p.Ala392= | |
| NR_037638.3:n.1477G>A (SLC28A3) |