ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156156474T>A , CM000663.2:g.156156474T>A | GRCh38 |
| NC_000001.10:g.156126265T>A , CM000663.1:g.156126265T>A | GRCh37 |
| NC_000001.9:g.154392889T>A | NCBI36 |
| NG_027683.1:g.11531T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368285.8:c.200T>A MANE Select | ENSP00000357268.3:p.Leu67Gln | |
| ENST00000355014.6:c.200T>A | ENSP00000347117.2:p.Leu67Gln | |
| ENST00000368282.1:c.200T>A | ENSP00000357265.1:p.Leu67Gln | |
| ENST00000368284.5:c.-98T>A | ENSP00000357267.1:n.-98T>A | |
| ENST00000368285.7:c.200T>A | ENSP00000357268.3:p.Leu67Gln | |
| ENST00000368286.6:c.86T>A | ENSP00000357269.3:p.Leu29Gln | |
| ENST00000414683.5:c.-98T>A | ENSP00000399230.1:n.-98T>A | |
| ENST00000435124.5:c.200T>A | ENSP00000401391.1:p.Leu67Gln | |
| ENST00000438830.5:c.200T>A | ENSP00000392865.1:p.Leu67Gln | |
| ENST00000470306.5:n.1598T>A | ||
| ENST00000485575.1:n.558T>A | ||
| ENST00000487358.5:n.50T>A | ||
| ENST00000633494.1:c.200T>A | ENSP00000487730.1:p.Leu67Gln | |
| NM_001193300.1:c.200T>A | NP_001180229.1:p.Leu67Gln | |
| NM_001193301.1:c.200T>A | NP_001180230.1:p.Leu67Gln | |
| NM_001193302.1:c.-98T>A | NP_001180231.1:n.-98T>A | |
| NM_022367.3:c.200T>A | NP_071762.2:p.Leu67Gln | |
| XM_011509871.1:c.86T>A | XP_011508173.1:p.Leu29Gln | |
| XM_011509872.1:c.200T>A | XP_011508174.1:p.Leu67Gln | |
| XM_011509873.1:c.200T>A | XP_011508175.1:p.Leu67Gln | |
| XM_011509874.1:c.-98T>A | XP_011508176.1:n.-98T>A | |
| XM_011509875.1:c.-98T>A | XP_011508177.1:n.-98T>A | |
| XM_011509876.1:c.-98T>A | XP_011508178.1:n.-98T>A | |
| XM_011509877.1:c.-98T>A | XP_011508179.1:n.-98T>A | |
| XM_011509878.1:c.-98T>A | XP_011508180.1:n.-98T>A | |
| XM_011509871.3:c.86T>A | XP_011508173.1:p.Leu29Gln | |
| XM_011509872.2:c.200T>A | XP_011508174.1:p.Leu67Gln | |
| XM_011509873.2:c.200T>A | XP_011508175.1:p.Leu67Gln | |
| XM_011509874.2:c.-98T>A | XP_011508176.1:n.-98T>A | |
| XM_011509875.3:c.-98T>A | XP_011508177.1:n.-98T>A | |
| XM_011509876.2:c.-98T>A | XP_011508178.1:n.-98T>A | |
| XM_011509878.2:c.-98T>A | XP_011508180.1:n.-98T>A | |
| XM_011509879.2:c.-325T>A | XP_011508181.1:n.-325T>A | |
| XM_017002056.1:c.200T>A | XP_016857545.1:p.Leu67Gln | |
| XM_017002057.1:c.-325T>A | XP_016857546.1:n.-325T>A | |
| NM_022367.4:c.200T>A MANE Select | NP_071762.2:p.Leu67Gln | |
| NM_001193300.2:c.200T>A | NP_001180229.1:p.Leu67Gln | |
| NM_001370567.1:c.200T>A | NP_001357496.1:p.Leu67Gln | |
| NM_001370568.1:c.-98T>A | NP_001357497.1:n.-98T>A | |
| NM_001370569.1:c.-325T>A | NP_001357498.1:n.-325T>A | |
| NM_001370571.1:c.-325T>A | NP_001357500.1:n.-325T>A | |
| NM_001193301.2:c.200T>A | NP_001180230.1:p.Leu67Gln | |
| NM_001193302.2:c.-98T>A | NP_001180231.1:n.-98T>A |