Linked Data
ClinVar Variation Id:
1228925
ClinVar RCV Id:
RCV001616556
dbSNP Id:
rs1256049
ExAC:
14:64724051 C / T
gnomAD v2:
14-64724051-C-T
gnomAD v3:
14-64257333-C-T
gnomAD v4:
14-64257333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64257333C>T , CM000676.2:g.64257333C>T | GRCh38 |
| NC_000014.8:g.64724051C>T , CM000676.1:g.64724051C>T | GRCh37 |
| NC_000014.7:g.63793804C>T | NCBI36 |
| NG_011535.1:g.86218G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341099.6:c.984G>A MANE Select | ENSP00000343925.4:p.Val328= | |
| ENST00000267525.10:c.952+3116G>A | ENSP00000267525.6:n.952+3116G>A | |
| ENST00000341099.5:c.984G>A | ENSP00000343925.4:p.Val328= | |
| ENST00000344288.10:c.952+3116G>A | ENSP00000345616.6:n.952+3116G>A | |
| ENST00000353772.7:c.984G>A | ENSP00000335551.4:p.Val328= | |
| ENST00000358599.9:c.984G>A | ENSP00000351412.5:p.Val328= | |
| ENST00000553796.5:c.984G>A | ENSP00000452426.1:p.Val328= | |
| ENST00000554520.1:n.780+3116G>A | ||
| ENST00000554572.5:c.984G>A | ENSP00000450699.1:p.Val328= | |
| ENST00000555278.5:c.984G>A | ENSP00000450488.1:p.Val328= | |
| ENST00000555483.5:n.719G>A | ||
| ENST00000555783.1:n.111G>A | ||
| ENST00000556275.5:c.984G>A | ENSP00000452485.2:p.Val328= | |
| ENST00000557772.5:c.984G>A | ENSP00000451582.1:p.Val328= | |
| NM_001040275.1:c.984G>A | NP_001035365.1:p.Val328= | |
| NM_001214902.1:c.984G>A | NP_001201831.1:p.Val328= | |
| NM_001271876.1:c.984G>A | NP_001258805.1:p.Val328= | |
| NM_001271877.1:c.952+3116G>A | NP_001258806.1:n.952+3116G>A | |
| NM_001291712.1:c.984G>A | NP_001278641.1:p.Val328= | |
| NM_001291723.1:c.984G>A | NP_001278652.1:p.Val328= | |
| NM_001437.2:c.984G>A | NP_001428.1:p.Val328= | |
| NR_073496.1:n.1695+3116G>A | ||
| NR_073497.1:n.952G>A | ||
| XM_011536545.1:c.984G>A | XP_011534847.1:p.Val328= | |
| XM_011536546.1:c.984G>A | XP_011534848.1:p.Val328= | |
| XM_017021079.1:c.984G>A | XP_016876568.1:p.Val328= | |
| XM_017021080.1:c.984G>A | XP_016876569.1:p.Val328= | |
| XM_017021081.1:c.984G>A | XP_016876570.1:p.Val328= | |
| XM_017021082.1:c.984G>A | XP_016876571.1:p.Val328= | |
| XM_017021083.1:c.984G>A | XP_016876572.1:p.Val328= | |
| XM_017021084.1:c.984G>A | XP_016876573.1:p.Val328= | |
| XR_001750187.1:n.1527+3116G>A | ||
| NM_001291712.2:c.984G>A | NP_001278641.1:p.Val328= | |
| NR_073496.2:n.1758+3116G>A | ||
| NM_001437.3:c.984G>A MANE Select | NP_001428.1:p.Val328= |