Linked Data
ClinVar Variation Id:
283469
dbSNP Id:
rs146272618
ExAC:
9:108397387 C / A
gnomAD v2:
9-108397387-C-A
gnomAD v3:
9-105635106-C-A
gnomAD v4:
9-105635106-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105635106C>A , CM000671.2:g.105635106C>A | GRCh38 |
| NC_000009.11:g.108397387C>A , CM000671.1:g.108397387C>A | GRCh37 |
| NC_000009.10:g.107437208C>A | NCBI36 |
| NG_008754.1:g.81977C>A , LRG_434:g.81977C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357998.10:c.1228C>A MANE Select | ENSP00000350687.6:p.His410Asn | |
| ENST00000602661.6:c.*836C>A | ENSP00000473540.2:n.*836C>A | |
| ENST00000642177.1:c.*443C>A | ENSP00000495864.1:n.*443C>A | |
| ENST00000642537.1:c.*1496C>A | ENSP00000495945.1:n.*1496C>A | |
| ENST00000642952.1:c.1568C>A | ENSP00000493886.1:n.1568C>A | |
| ENST00000644273.1:c.511C>A | ||
| ENST00000645933.1:c.*1541C>A | ENSP00000495852.1:n.*1541C>A | |
| ENST00000674563.1:c.*209C>A | ENSP00000502153.1:n.*209C>A | |
| ENST00000674633.1:c.1228C>A | ENSP00000502164.1:p.His410Asn | |
| ENST00000675695.1:c.*209C>A | ENSP00000502460.1:n.*209C>A | |
| ENST00000675736.1:c.*1008C>A | ENSP00000502809.1:n.*1008C>A | |
| ENST00000676011.1:n.2592C>A | ||
| ENST00000676310.1:c.1228C>A | ENSP00000501585.1:p.His410Asn | |
| ENST00000223528.6:c.1228C>A | ENSP00000223528.2:p.His410Asn | |
| ENST00000357998.9:c.1228C>A | ENSP00000350687.5:p.His410Asn | |
| ENST00000448551.6:c.1228C>A | ENSP00000399140.2:p.His410Asn | |
| ENST00000457847.1:c.318C>A | ||
| ENST00000602526.1:c.*1266C>A | ENSP00000473347.1:n.*1266C>A | |
| ENST00000602661.5:c.1228C>A | ENSP00000473540.1:p.His410Asn | |
| NM_001079802.1:c.1228C>A , LRG_434t1:c.1228C>A | NP_001073270.1:p.His410Asn | |
| NM_001198963.1:c.1228C>A | NP_001185892.1:p.His410Asn | |
| NM_006731.2:c.1228C>A , LRG_434t2:c.1228C>A | NP_006722.2:p.His410Asn | |
| XM_006717014.2:c.*20C>A | XP_006717077.1:n.*20C>A | |
| XM_011518378.1:c.*12C>A | XP_011516680.1:n.*12C>A | |
| XM_011518380.1:c.*167C>A | XP_011516682.1:n.*167C>A | |
| XM_011518386.1:c.*20C>A | XP_011516688.1:n.*20C>A | |
| XM_011518391.1:c.*20C>A | XP_011516693.1:n.*20C>A | |
| NM_001351496.1:c.1228C>A | NP_001338425.1:p.His410Asn | |
| NM_001351497.1:c.1159C>A | NP_001338426.1:p.His387Asn | |
| NM_001351498.1:c.*20C>A | NP_001338427.1:n.*20C>A | |
| NM_001351499.1:c.832C>A | NP_001338428.1:p.His278Asn | |
| NM_001351500.1:c.832C>A | NP_001338429.1:p.His278Asn | |
| NM_001351501.1:c.832C>A | NP_001338430.1:p.His278Asn | |
| NM_001351502.1:c.832C>A | NP_001338431.1:p.His278Asn | |
| NR_147213.1:n.1352C>A | ||
| NR_147214.1:n.1524C>A | ||
| XM_011518378.2:c.*12C>A | XP_011516680.1:n.*12C>A | |
| XM_011518391.2:c.*20C>A | XP_011516693.1:n.*20C>A | |
| XM_017014464.1:c.1228C>A | XP_016869953.1:p.His410Asn | |
| XM_017014465.1:c.1228C>A | XP_016869954.1:p.His410Asn | |
| XM_017014467.1:c.1228C>A | XP_016869956.1:p.His410Asn | |
| XM_017014468.1:c.1228C>A | XP_016869957.1:p.His410Asn | |
| XM_017014469.1:c.1228C>A | XP_016869958.1:p.His410Asn | |
| XM_017014470.1:c.1228C>A | XP_016869959.1:p.His410Asn | |
| XR_001746242.2:n.1795C>A | ||
| XR_001746243.2:n.1914C>A | ||
| XR_001746244.2:n.1623C>A | ||
| XR_001746245.1:n.1614C>A | ||
| XR_001746248.1:n.2707C>A | ||
| XR_002956770.1:n.1470C>A | ||
| NM_001079802.2:c.1228C>A MANE Select | NP_001073270.1:p.His410Asn | |
| NM_001198963.2:c.1228C>A | NP_001185892.1:p.His410Asn | |
| NM_001351496.2:c.1228C>A | NP_001338425.1:p.His410Asn | |
| NM_001351497.2:c.1159C>A | NP_001338426.1:p.His387Asn | |
| NM_001351498.2:c.*20C>A | NP_001338427.1:n.*20C>A | |
| NM_001351499.2:c.832C>A | NP_001338428.1:p.His278Asn | |
| NM_001351500.2:c.832C>A | NP_001338429.1:p.His278Asn | |
| NM_001351501.2:c.832C>A | NP_001338430.1:p.His278Asn | |
| NM_001351502.2:c.832C>A | NP_001338431.1:p.His278Asn | |
| NR_147213.2:n.1351C>A | ||
| NR_147214.2:n.1523C>A |