Linked Data
ClinVar Variation Id:
1164564
ClinVar RCV Id:
RCV001510670
dbSNP Id:
rs1860746
gnomAD v2:
7-151385353-C-A
gnomAD v3:
7-151688267-C-A
gnomAD v4:
7-151688267-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151688267C>A , CM000669.2:g.151688267C>A | GRCh38 |
| NC_000007.13:g.151385353C>A , CM000669.1:g.151385353C>A | GRCh37 |
| NC_000007.12:g.151016286C>A | NCBI36 |
| NG_007486.1:g.193964G>T | |
| NG_007486.2:g.193965G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652321.2:c.467-12630G>T | ENSP00000498886.2:n.467-12630G>T | |
| ENST00000287878.9:c.467-12630G>T MANE Select | ENSP00000287878.3:n.467-12630G>T | |
| ENST00000487375.2:n.344-12630G>T | ||
| ENST00000492843.6:c.95-12630G>T | ENSP00000419577.2:n.95-12630G>T | |
| ENST00000650858.1:c.-247-12630G>T | ENSP00000498384.1:n.-247-12630G>T | |
| ENST00000650948.1:n.582-12630G>T | ||
| ENST00000651188.1:c.335-12630G>T | ENSP00000498557.1:n.335-12630G>T | |
| ENST00000651303.1:c.335-12630G>T | ENSP00000498428.1:n.335-12630G>T | |
| ENST00000651378.1:c.-257-12630G>T | ENSP00000499103.1:n.-257-12630G>T | |
| ENST00000651764.1:c.335-12630G>T | ENSP00000498796.1:n.335-12630G>T | |
| ENST00000651836.1:c.238-12630G>T | ENSP00000499156.1:n.238-12630G>T | |
| ENST00000652047.1:c.335-12630G>T | ENSP00000499111.1:n.335-12630G>T | |
| ENST00000652136.1:n.203-12630G>T | ||
| ENST00000652159.1:c.335-12630G>T | ENSP00000499025.1:n.335-12630G>T | |
| ENST00000652321.1:c.467-12630G>T | ENSP00000498886.1:n.467-12630G>T | |
| ENST00000652707.1:c.335-12630G>T | ENSP00000498954.1:n.335-12630G>T | |
| ENST00000287878.8:c.467-12630G>T | ENSP00000287878.3:n.467-12630G>T | |
| ENST00000392801.6:c.335-12630G>T | ENSP00000376549.2:n.335-12630G>T | |
| ENST00000461529.1:n.486-12630G>T | ||
| ENST00000481434.5:n.972-12630G>T | ||
| ENST00000487375.1:n.344-12630G>T | ||
| ENST00000488258.5:c.467-12630G>T | ENSP00000420783.1:n.467-12630G>T | |
| ENST00000492843.5:c.95-12630G>T | ENSP00000419577.1:n.95-12630G>T | |
| NM_001040633.1:c.335-12630G>T | NP_001035723.1:n.335-12630G>T | |
| NM_001304527.1:c.95-12630G>T | NP_001291456.1:n.95-12630G>T | |
| NM_016203.3:c.467-12630G>T | NP_057287.2:n.467-12630G>T | |
| XM_005250002.2:c.467-12630G>T | XP_005250059.1:n.467-12630G>T | |
| XM_005250004.2:c.335-12630G>T | XP_005250061.1:n.335-12630G>T | |
| XM_005250006.3:c.95-12630G>T | XP_005250063.1:n.95-12630G>T | |
| XM_006716021.2:c.455-12630G>T | XP_006716084.1:n.455-12630G>T | |
| XM_011516282.1:c.455-12630G>T | XP_011514584.1:n.455-12630G>T | |
| XM_011516283.1:c.455-12630G>T | XP_011514585.1:n.455-12630G>T | |
| XM_011516284.1:c.455-12630G>T | XP_011514586.1:n.455-12630G>T | |
| XM_011516287.1:c.-247-12630G>T | XP_011514589.1:n.-247-12630G>T | |
| NM_001363698.1:c.95-12630G>T | NP_001350627.1:n.95-12630G>T | |
| XM_005250002.4:c.467-12630G>T | XP_005250059.1:n.467-12630G>T | |
| XM_005250004.4:c.335-12630G>T | XP_005250061.1:n.335-12630G>T | |
| XM_005250006.5:c.95-12630G>T | XP_005250063.1:n.95-12630G>T | |
| XM_017012268.2:c.335-12630G>T | XP_016867757.1:n.335-12630G>T | |
| XM_017012269.1:c.467-12630G>T | XP_016867758.1:n.467-12630G>T | |
| XM_017012270.1:c.335-12630G>T | XP_016867759.1:n.335-12630G>T | |
| XM_017012271.2:c.335-12630G>T | XP_016867760.1:n.335-12630G>T | |
| XM_017012272.1:c.335-12630G>T | XP_016867761.1:n.335-12630G>T | |
| XM_017012275.2:c.-244-12630G>T | XP_016867764.1:n.-244-12630G>T | |
| XM_017012276.2:c.-257-12630G>T | XP_016867765.1:n.-257-12630G>T | |
| XM_017012278.1:c.-247-12630G>T | XP_016867767.1:n.-247-12630G>T | |
| XM_017012279.2:c.-247-12630G>T | XP_016867768.1:n.-247-12630G>T | |
| XM_017012280.2:c.-244-12630G>T | XP_016867769.1:n.-244-12630G>T | |
| XM_017012281.2:c.-244-12630G>T | XP_016867770.1:n.-244-12630G>T | |
| XM_024446786.1:c.335-12630G>T | XP_024302554.1:n.335-12630G>T | |
| XM_024446787.1:c.-257-12630G>T | XP_024302555.1:n.-257-12630G>T | |
| XM_024446788.1:c.-257-12630G>T | XP_024302556.1:n.-257-12630G>T | |
| XM_024446789.1:c.-257-12630G>T | XP_024302557.1:n.-257-12630G>T | |
| NM_016203.4:c.467-12630G>T MANE Select | NP_057287.2:n.467-12630G>T | |
| NM_001040633.2:c.335-12630G>T | NP_001035723.1:n.335-12630G>T | |
| NM_001304527.2:c.95-12630G>T | NP_001291456.1:n.95-12630G>T | |
| NM_001363698.2:c.95-12630G>T | NP_001350627.1:n.95-12630G>T |