Linked Data
ClinVar Variation Id:
181485
ClinVar RCV Id:
RCV000159028
RCV000825443
RCV000852580
RCV001163072
RCV001165163
RCV001189388
RCV001371420
RCV002326907
RCV003998384
dbSNP Id:
rs150140412
ExAC:
7:151478273 G / A
gnomAD v2:
7-151478273-G-A
gnomAD v3:
7-151781187-G-A
gnomAD v4:
7-151781187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151781187G>A , CM000669.2:g.151781187G>A | GRCh38 |
| NC_000007.13:g.151478273G>A , CM000669.1:g.151478273G>A | GRCh37 |
| NC_000007.12:g.151109206G>A | NCBI36 |
| NG_007486.1:g.101044C>T | |
| NG_007486.2:g.101045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652321.2:c.431C>T | ENSP00000498886.2:p.Pro144Leu | |
| ENST00000287878.9:c.431C>T MANE Select | ENSP00000287878.3:p.Pro144Leu | |
| ENST00000650858.1:c.-248+33229C>T | ENSP00000498384.1:n.-248+33229C>T | |
| ENST00000650948.1:n.546C>T | ||
| ENST00000651188.1:c.299C>T | ENSP00000498557.1:p.Pro100Leu | |
| ENST00000651303.1:c.299C>T | ENSP00000498428.1:p.Pro100Leu | |
| ENST00000651378.1:c.-258+33229C>T | ENSP00000499103.1:n.-258+33229C>T | |
| ENST00000651764.1:c.299C>T | ENSP00000498796.1:p.Pro100Leu | |
| ENST00000651836.1:c.176C>T | ENSP00000499156.1:p.Pro59Leu | |
| ENST00000652047.1:c.299C>T | ENSP00000499111.1:p.Pro100Leu | |
| ENST00000652136.1:n.167C>T | ||
| ENST00000652159.1:c.299C>T | ENSP00000499025.1:p.Pro100Leu | |
| ENST00000652321.1:c.431C>T | ENSP00000498886.1:p.Pro144Leu | |
| ENST00000652707.1:c.299C>T | ENSP00000498954.1:p.Pro100Leu | |
| ENST00000652714.1:n.604C>T | ||
| ENST00000287878.8:c.431C>T | ENSP00000287878.3:p.Pro144Leu | |
| ENST00000392801.6:c.299C>T | ENSP00000376549.2:p.Pro100Leu | |
| ENST00000461529.1:n.450C>T | ||
| ENST00000481434.5:n.936C>T | ||
| ENST00000488258.5:c.431C>T | ENSP00000420783.1:p.Pro144Leu | |
| NM_001040633.1:c.299C>T | NP_001035723.1:p.Pro100Leu | |
| NM_016203.3:c.431C>T | NP_057287.2:p.Pro144Leu | |
| XM_005250002.2:c.431C>T | XP_005250059.1:p.Pro144Leu | |
| XM_005250004.2:c.299C>T | XP_005250061.1:p.Pro100Leu | |
| XM_006716021.2:c.419C>T | XP_006716084.1:p.Pro140Leu | |
| XM_011516282.1:c.419C>T | XP_011514584.1:p.Pro140Leu | |
| XM_011516283.1:c.419C>T | XP_011514585.1:p.Pro140Leu | |
| XM_011516284.1:c.419C>T | XP_011514586.1:p.Pro140Leu | |
| XM_011516287.1:c.-283C>T | XP_011514589.1:n.-283C>T | |
| XM_005250002.4:c.431C>T | XP_005250059.1:p.Pro144Leu | |
| XM_005250004.4:c.299C>T | XP_005250061.1:p.Pro100Leu | |
| XM_017012268.2:c.299C>T | XP_016867757.1:p.Pro100Leu | |
| XM_017012269.1:c.431C>T | XP_016867758.1:p.Pro144Leu | |
| XM_017012270.1:c.299C>T | XP_016867759.1:p.Pro100Leu | |
| XM_017012271.2:c.299C>T | XP_016867760.1:p.Pro100Leu | |
| XM_017012272.1:c.299C>T | XP_016867761.1:p.Pro100Leu | |
| XM_017012275.2:c.-280C>T | XP_016867764.1:n.-280C>T | |
| XM_017012276.2:c.-319C>T | XP_016867765.1:n.-319C>T | |
| XM_017012278.1:c.-283C>T | XP_016867767.1:n.-283C>T | |
| XM_017012279.2:c.-283C>T | XP_016867768.1:n.-283C>T | |
| XM_017012280.2:c.-280C>T | XP_016867769.1:n.-280C>T | |
| XM_017012281.2:c.-306C>T | XP_016867770.1:n.-306C>T | |
| XM_024446786.1:c.299C>T | XP_024302554.1:p.Pro100Leu | |
| XM_024446787.1:c.-319C>T | XP_024302555.1:n.-319C>T | |
| XM_024446788.1:c.-319C>T | XP_024302556.1:n.-319C>T | |
| XM_024446789.1:c.-319C>T | XP_024302557.1:n.-319C>T | |
| NM_016203.4:c.431C>T MANE Select | NP_057287.2:p.Pro144Leu | |
| NM_001040633.2:c.299C>T | NP_001035723.1:p.Pro100Leu |