Linked Data
ClinVar Variation Id:
487079
ClinVar RCV Id:
RCV001613385
dbSNP Id:
rs1527483
gnomAD v2:
7-80301500-G-A
gnomAD v3:
7-80672184-G-A
gnomAD v4:
7-80672184-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80672184G>A , CM000669.2:g.80672184G>A | GRCh38 |
| NC_000007.13:g.80301500G>A , CM000669.1:g.80301500G>A | GRCh37 |
| NC_000007.12:g.80139436G>A | NCBI36 |
| NG_008192.1:g.74997G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447544.7:c.1125+144G>A MANE Select | ENSP00000415743.2:n.1125+144G>A | |
| ENST00000309881.11:c.1125+144G>A | ENSP00000308165.7:n.1125+144G>A | |
| ENST00000394788.7:c.1125+144G>A | ENSP00000378268.3:n.1125+144G>A | |
| ENST00000419819.2:c.1125+144G>A | ENSP00000392298.2:n.1125+144G>A | |
| ENST00000432207.5:c.1125+144G>A | ENSP00000411411.1:n.1125+144G>A | |
| ENST00000433696.6:c.1008+144G>A | ENSP00000401863.2:n.1008+144G>A | |
| ENST00000435819.5:c.1125+144G>A | ENSP00000399421.1:n.1125+144G>A | |
| ENST00000447544.6:c.1125+144G>A | ENSP00000415743.2:n.1125+144G>A | |
| ENST00000464213.1:n.1907+144G>A | ||
| ENST00000534394.5:c.897+144G>A | ENSP00000431296.1:n.897+144G>A | |
| ENST00000538969.5:c.945+144G>A | ENSP00000439543.1:n.945+144G>A | |
| ENST00000544133.5:c.*70+144G>A | ENSP00000441956.1:n.*70+144G>A | |
| NM_000072.3:c.1125+144G>A | NP_000063.2:n.1125+144G>A | |
| NM_001001547.2:c.1125+144G>A | NP_001001547.1:n.1125+144G>A | |
| NM_001001548.2:c.1125+144G>A | NP_001001548.1:n.1125+144G>A | |
| NM_001127443.1:c.1125+144G>A | NP_001120915.1:n.1125+144G>A | |
| NM_001127444.1:c.1125+144G>A | NP_001120916.1:n.1125+144G>A | |
| NM_001289908.1:c.1008+144G>A | NP_001276837.1:n.1008+144G>A | |
| NM_001289909.1:c.945+144G>A | NP_001276838.1:n.945+144G>A | |
| NM_001289911.1:c.897+144G>A | NP_001276840.1:n.897+144G>A | |
| NR_110501.1:n.1116+144G>A | ||
| XM_005250713.1:c.1125+144G>A | XP_005250770.1:n.1125+144G>A | |
| XM_005250714.1:c.1125+144G>A | XP_005250771.1:n.1125+144G>A | |
| XM_005250715.3:c.1125+144G>A | XP_005250772.1:n.1125+144G>A | |
| XM_011516707.1:c.1125+144G>A | XP_011515009.1:n.1125+144G>A | |
| XM_005250715.5:c.1125+144G>A | XP_005250772.1:n.1125+144G>A | |
| XM_024447002.1:c.1125+144G>A | XP_024302770.1:n.1125+144G>A | |
| XM_024447003.1:c.1125+144G>A | XP_024302771.1:n.1125+144G>A | |
| NM_001001547.3:c.1125+144G>A | NP_001001547.1:n.1125+144G>A | |
| NM_001127444.2:c.1125+144G>A | NP_001120916.1:n.1125+144G>A | |
| NM_001289911.2:c.897+144G>A | NP_001276840.1:n.897+144G>A | |
| NM_001371074.1:c.1125+144G>A | NP_001358003.1:n.1125+144G>A | |
| NM_001371075.1:c.1125+144G>A | NP_001358004.1:n.1125+144G>A | |
| NM_001371077.1:c.1125+144G>A | NP_001358006.1:n.1125+144G>A | |
| NM_001371078.1:c.1125+144G>A | NP_001358007.1:n.1125+144G>A | |
| NM_001371079.1:c.1023+144G>A | NP_001358008.1:n.1023+144G>A | |
| NM_001371080.1:c.660+144G>A | NP_001358009.1:n.660+144G>A | |
| NM_001371081.1:c.660+144G>A | NP_001358010.1:n.660+144G>A | |
| NM_001001548.3:c.1125+144G>A MANE Select | NP_001001548.1:n.1125+144G>A | |
| NM_001127443.2:c.1125+144G>A | NP_001120915.1:n.1125+144G>A |