Linked Data
ClinVar Variation Id:
360753
ClinVar RCV Id:
RCV000392387
dbSNP Id:
rs754938089
ExAC:
7:80290365 T / A
gnomAD v2:
7-80290365-T-A
gnomAD v3:
7-80661049-T-A
gnomAD v4:
7-80661049-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80661049T>A , CM000669.2:g.80661049T>A | GRCh38 |
| NC_000007.13:g.80290365T>A , CM000669.1:g.80290365T>A | GRCh37 |
| NC_000007.12:g.80128301T>A | NCBI36 |
| NG_008192.1:g.63862T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447544.7:c.282-14T>A MANE Select | ENSP00000415743.2:n.282-14T>A | |
| ENST00000309881.11:c.282-14T>A | ENSP00000308165.7:n.282-14T>A | |
| ENST00000394788.7:c.282-14T>A | ENSP00000378268.3:n.282-14T>A | |
| ENST00000413265.5:c.282-14T>A | ENSP00000407690.1:n.282-14T>A | |
| ENST00000419819.2:c.282-14T>A | ENSP00000392298.2:n.282-14T>A | |
| ENST00000426978.5:c.282-14T>A | ENSP00000416388.1:n.282-14T>A | |
| ENST00000432207.5:c.282-14T>A | ENSP00000411411.1:n.282-14T>A | |
| ENST00000433696.6:c.282-14T>A | ENSP00000401863.2:n.282-14T>A | |
| ENST00000435819.5:c.282-14T>A | ENSP00000399421.1:n.282-14T>A | |
| ENST00000438020.5:c.282-14T>A | ENSP00000410371.1:n.282-14T>A | |
| ENST00000441034.2:c.242-1941T>A | ENSP00000396258.2:n.242-1941T>A | |
| ENST00000447544.6:c.282-14T>A | ENSP00000415743.2:n.282-14T>A | |
| ENST00000534394.5:c.54-14T>A | ENSP00000431296.1:n.54-14T>A | |
| ENST00000538969.5:c.282-14T>A | ENSP00000439543.1:n.282-14T>A | |
| ENST00000544133.5:c.282-14T>A | ENSP00000441956.1:n.282-14T>A | |
| NM_000072.3:c.282-14T>A | NP_000063.2:n.282-14T>A | |
| NM_001001547.2:c.282-14T>A | NP_001001547.1:n.282-14T>A | |
| NM_001001548.2:c.282-14T>A | NP_001001548.1:n.282-14T>A | |
| NM_001127443.1:c.282-14T>A | NP_001120915.1:n.282-14T>A | |
| NM_001127444.1:c.282-14T>A | NP_001120916.1:n.282-14T>A | |
| NM_001289908.1:c.282-14T>A | NP_001276837.1:n.282-14T>A | |
| NM_001289909.1:c.282-14T>A | NP_001276838.1:n.282-14T>A | |
| NM_001289911.1:c.54-14T>A | NP_001276840.1:n.54-14T>A | |
| NR_110501.1:n.461-14T>A | ||
| XM_005250713.1:c.282-14T>A | XP_005250770.1:n.282-14T>A | |
| XM_005250714.1:c.282-14T>A | XP_005250771.1:n.282-14T>A | |
| XM_005250715.3:c.282-14T>A | XP_005250772.1:n.282-14T>A | |
| XM_011516707.1:c.282-14T>A | XP_011515009.1:n.282-14T>A | |
| XM_005250715.5:c.282-14T>A | XP_005250772.1:n.282-14T>A | |
| XM_024447002.1:c.282-14T>A | XP_024302770.1:n.282-14T>A | |
| XM_024447003.1:c.282-14T>A | XP_024302771.1:n.282-14T>A | |
| NM_001001547.3:c.282-14T>A | NP_001001547.1:n.282-14T>A | |
| NM_001127444.2:c.282-14T>A | NP_001120916.1:n.282-14T>A | |
| NM_001289911.2:c.54-14T>A | NP_001276840.1:n.54-14T>A | |
| NM_001371074.1:c.282-14T>A | NP_001358003.1:n.282-14T>A | |
| NM_001371075.1:c.282-14T>A | NP_001358004.1:n.282-14T>A | |
| NM_001371077.1:c.282-14T>A | NP_001358006.1:n.282-14T>A | |
| NM_001371078.1:c.282-14T>A | NP_001358007.1:n.282-14T>A | |
| NM_001371079.1:c.180-14T>A | NP_001358008.1:n.180-14T>A | |
| NM_001371080.1:c.-184-14T>A | NP_001358009.1:n.-184-14T>A | |
| NM_001371081.1:c.-201-14T>A | NP_001358010.1:n.-201-14T>A | |
| NM_001001548.3:c.282-14T>A MANE Select | NP_001001548.1:n.282-14T>A | |
| NM_001127443.2:c.282-14T>A | NP_001120915.1:n.282-14T>A |