Linked Data
ClinVar Variation Id:
1932586
ClinVar RCV Id:
RCV002622648
dbSNP Id:
rs1210135862
gnomAD v2:
4-113567745-T-A
gnomAD v4:
4-112646589-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112646589T>A , CM000666.2:g.112646589T>A | GRCh38 |
| NC_000004.11:g.113567745T>A , CM000666.1:g.113567745T>A | GRCh37 |
| NC_000004.10:g.113787194T>A | NCBI36 |
| NG_032779.1:g.14626T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505034.6:c.305T>A | ENSP00000421541.2:p.Leu102His | |
| ENST00000505216.2:c.*64T>A | ENSP00000424116.1:n.*64T>A | |
| ENST00000694891.1:c.305T>A | ENSP00000511571.1:p.Leu102His | |
| ENST00000694892.1:n.445T>A | ||
| ENST00000694893.1:n.534T>A | ||
| ENST00000694894.1:c.305T>A | ENSP00000511572.1:p.Leu102His | |
| ENST00000694895.1:c.305T>A | ENSP00000511573.1:p.Leu102His | |
| ENST00000694896.1:c.305T>A | ENSP00000511574.1:p.Leu102His | |
| ENST00000694897.1:c.305T>A | ENSP00000511575.1:p.Leu102His | |
| ENST00000694898.1:c.305T>A | ENSP00000511576.1:p.Leu102His | |
| ENST00000694899.1:c.305T>A | ENSP00000511577.1:p.Leu102His | |
| ENST00000694900.1:c.305T>A | ENSP00000511578.1:p.Leu102His | |
| ENST00000694901.1:c.*64T>A | ENSP00000511579.1:n.*64T>A | |
| ENST00000694902.1:n.826T>A | ||
| ENST00000511529.2:c.305T>A | ENSP00000426376.2:p.Leu102His | |
| ENST00000512361.2:n.414T>A | ||
| ENST00000512589.6:c.*111T>A | ENSP00000426709.1:n.*111T>A | |
| ENST00000684864.1:c.305T>A | ENSP00000509993.1:p.Leu102His | |
| ENST00000688617.1:n.579T>A | ||
| ENST00000689262.1:n.1456T>A | ||
| ENST00000689844.1:c.305T>A | ENSP00000509899.1:p.Leu102His | |
| ENST00000690008.1:c.*64T>A | ENSP00000508938.1:n.*64T>A | |
| ENST00000692075.1:n.470T>A | ||
| ENST00000692168.1:n.393T>A | ||
| ENST00000692416.1:c.68T>A | ENSP00000509527.1:p.Leu23His | |
| ENST00000693375.1:c.68T>A | ENSP00000508585.1:p.Leu23His | |
| ENST00000693442.1:c.305T>A | ENSP00000509975.1:p.Leu102His | |
| ENST00000344442.10:c.305T>A MANE Select | ENSP00000344950.5:p.Leu102His | |
| ENST00000651579.1:c.305T>A | ENSP00000499190.1:p.Leu102His | |
| ENST00000324052.10:c.305T>A | ENSP00000314311.6:p.Leu102His | |
| ENST00000344442.9:c.305T>A | ENSP00000344950.5:p.Leu102His | |
| ENST00000505034.5:c.305T>A | ENSP00000421541.1:p.Leu102His | |
| ENST00000505216.1:c.*64T>A | ENSP00000424116.1:n.*64T>A | |
| ENST00000507443.1:c.305T>A | ENSP00000421963.1:p.Leu102His | |
| ENST00000508577.5:c.305T>A | ENSP00000426646.1:p.Leu102His | |
| ENST00000509061.5:c.326T>A | ENSP00000422626.1:p.Leu109His | |
| ENST00000509622.5:c.*64T>A | ENSP00000422451.1:n.*64T>A | |
| ENST00000512589.5:c.*111T>A | ENSP00000426709.1:n.*111T>A | |
| ENST00000513553.5:c.31-1130T>A | ENSP00000422013.1:n.31-1130T>A | |
| NM_001267039.1:c.326T>A | NP_001253968.1:p.Leu109His | |
| NM_015454.2:c.305T>A | NP_056269.1:p.Leu102His | |
| NM_016648.3:c.305T>A | NP_057732.2:p.Leu102His | |
| NR_049768.1:n.480T>A | ||
| XM_024454080.1:c.305T>A | XP_024309848.1:p.Leu102His | |
| XM_024454081.1:c.305T>A | XP_024309849.1:p.Leu102His | |
| XM_024454082.1:c.305T>A | XP_024309850.1:p.Leu102His | |
| XM_024454083.1:c.305T>A | XP_024309851.1:p.Leu102His | |
| XM_024454084.1:c.305T>A | XP_024309852.1:p.Leu102His | |
| XM_024454085.1:c.305T>A | XP_024309853.1:p.Leu102His | |
| XM_024454086.1:c.68T>A | XP_024309854.1:p.Leu23His | |
| XM_024454087.1:c.68T>A | XP_024309855.1:p.Leu23His | |
| XM_024454088.1:c.68T>A | XP_024309856.1:p.Leu23His | |
| XM_024454089.1:c.-496T>A | XP_024309857.1:n.-496T>A | |
| NM_016648.4:c.305T>A MANE Select | NP_057732.2:p.Leu102His | |
| NM_001370974.1:c.305T>A | NP_001357903.1:p.Leu102His | |
| NM_001370975.1:c.305T>A | NP_001357904.1:p.Leu102His | |
| NM_001370976.1:c.305T>A | NP_001357905.1:p.Leu102His | |
| NM_001370977.1:c.305T>A | NP_001357906.1:p.Leu102His | |
| NM_001370978.1:c.305T>A | NP_001357907.1:p.Leu102His | |
| NM_001370979.1:c.305T>A | NP_001357908.1:p.Leu102His | |
| NM_001370980.1:c.305T>A | NP_001357909.1:p.Leu102His | |
| NM_001370981.1:c.68T>A | NP_001357910.1:p.Leu23His | |
| NM_001370982.1:c.68T>A | NP_001357911.1:p.Leu23His | |
| NM_001267039.2:c.326T>A | NP_001253968.1:p.Leu109His | |
| NM_015454.3:c.305T>A | NP_056269.1:p.Leu102His | |
| NM_001267039.4:c.305T>A | NP_001253968.2:p.Leu102His |