Linked Data
ClinVar Variation Id:
498452
dbSNP Id:
rs751342895
ExAC:
14:21789416 A / G
gnomAD v2:
14-21789416-A-G
gnomAD v4:
14-21321257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21321257A>G , CM000676.2:g.21321257A>G | GRCh38 |
| NC_000014.8:g.21789416A>G , CM000676.1:g.21789416A>G | GRCh37 |
| NC_000014.7:g.20859256A>G | NCBI36 |
| NG_008933.1:g.38281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1468-2A>G MANE Select | ENSP00000382895.2:n.1468-2A>G | |
| ENST00000382933.8:c.394-2A>G | ENSP00000372391.4:n.394-2A>G | |
| ENST00000400017.6:c.1468-2A>G | ENSP00000382895.2:n.1468-2A>G | |
| ENST00000553500.5:n.28-2A>G | ||
| ENST00000556336.5:c.1387-2A>G | ENSP00000450445.1:n.1387-2A>G | |
| ENST00000557351.1:c.469-2A>G | ENSP00000452215.1:n.469-2A>G | |
| ENST00000557771.5:c.1387-2A>G | ENSP00000451219.1:n.1387-2A>G | |
| NM_020366.3:c.1468-2A>G | NP_065099.3:n.1468-2A>G | |
| XM_005267879.2:c.394-2A>G | XP_005267936.1:n.394-2A>G | |
| XM_005267880.2:c.394-2A>G | XP_005267937.1:n.394-2A>G | |
| XM_011536978.1:c.394-2A>G | XP_011535280.1:n.394-2A>G | |
| XM_011536979.1:c.394-2A>G | XP_011535281.1:n.394-2A>G | |
| XM_011536980.1:c.394-2A>G | XP_011535282.1:n.394-2A>G | |
| XM_011536981.1:c.394-2A>G | XP_011535283.1:n.394-2A>G | |
| XM_011536982.1:c.394-2A>G | XP_011535284.1:n.394-2A>G | |
| XM_011536983.1:c.1435-2A>G | XP_011535285.1:n.1435-2A>G | |
| XM_017021473.1:c.394-2A>G | XP_016876962.1:n.394-2A>G | |
| XM_024449663.1:c.394-2A>G | XP_024305431.1:n.394-2A>G | |
| XM_024449664.1:c.394-2A>G | XP_024305432.1:n.394-2A>G | |
| XM_024449665.1:c.394-2A>G | XP_024305433.1:n.394-2A>G | |
| XM_024449666.1:c.394-2A>G | XP_024305434.1:n.394-2A>G | |
| NM_001377523.1:c.394-2A>G | NP_001364452.1:n.394-2A>G | |
| NM_001377948.1:c.394-2A>G | NP_001364877.1:n.394-2A>G | |
| NM_001377949.1:c.394-2A>G | NP_001364878.1:n.394-2A>G | |
| NM_001377950.1:c.394-2A>G | NP_001364879.1:n.394-2A>G | |
| NM_001377951.1:c.-105-2A>G | NP_001364880.1:n.-105-2A>G | |
| NM_020366.4:c.1468-2A>G MANE Select | NP_065099.3:n.1468-2A>G |