Linked Data
dbSNP Id:
rs1251237502
gnomAD v2:
9-37436769-T-A
gnomAD v3:
9-37436772-T-A
gnomAD v4:
9-37436772-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436772T>A , CM000671.2:g.37436772T>A | GRCh38 |
| NC_000009.11:g.37436769T>A , CM000671.1:g.37436769T>A | GRCh37 |
| NC_000009.10:g.37426769T>A | NCBI36 |
| NG_008135.1:g.19063T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.977T>A MANE Select | ENSP00000313432.6:p.Leu326His | |
| ENST00000318158.10:c.977T>A | ENSP00000313432.6:p.Leu326His | |
| ENST00000460882.5:n.1004T>A | ||
| ENST00000480596.5:n.1678T>A | ||
| ENST00000494290.1:c.*52-109T>A | ENSP00000432021.1:n.*52-109T>A | |
| ENST00000497693.1:n.4545T>A | ||
| NM_012203.1:c.977T>A | NP_036335.1:p.Leu326His | |
| XM_005251631.1:c.656T>A | XP_005251688.1:p.Leu219His | |
| XM_011518073.1:c.575T>A | XP_011516375.1:p.Leu192His | |
| XM_017015320.2:c.946-639T>A | XP_016870809.1:n.946-639T>A | |
| XM_017015321.2:c.866-639T>A | XP_016870810.1:n.866-639T>A | |
| XM_017015323.2:c.544-639T>A | XP_016870812.1:n.544-639T>A | |
| XM_024447716.1:c.1219-639T>A | XP_024303484.1:n.1219-639T>A | |
| XM_024447717.1:c.1139-639T>A | XP_024303485.1:n.1139-639T>A | |
| XR_002956828.1:n.1234-639T>A | ||
| XR_002956829.1:n.1154-639T>A | ||
| XR_002956830.1:n.2397T>A | ||
| XR_002956831.1:n.2072T>A | ||
| XR_002956832.1:n.1396T>A | ||
| NM_012203.2:c.977T>A MANE Select | NP_036335.1:p.Leu326His |