Linked Data
ClinVar Variation Id:
2110
ClinVar RCV Id:
RCV000002191
dbSNP Id:
rs119103240
gnomAD v2:
11-111931812-C-A
gnomAD v4:
11-112061088-C-A
PubMed:
PMID:16049940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112061088C>A , CM000673.2:g.112061088C>A | GRCh38 |
| NC_000011.9:g.111931812C>A , CM000673.1:g.111931812C>A | GRCh37 |
| NC_000011.8:g.111437022C>A | NCBI36 |
| NG_013342.1:g.41275C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713569.1:c.1728C>A (DLAT) | ENSP00000518862.1:p.Phe576Leu | |
| ENST00000280346.11:c.1728C>A (DLAT) MANE Select | ENSP00000280346.7:p.Phe576Leu | |
| ENST00000527231.2:n.1775C>A (DLAT) | ||
| ENST00000531306.2:c.1347C>A (DLAT) | ENSP00000433432.2:p.Phe449Leu | |
| ENST00000679368.1:c.*655C>A (DLAT) | ENSP00000505314.1:n.*655C>A | |
| ENST00000679614.1:c.1125C>A (DLAT) | ENSP00000506007.1:p.Phe375Leu | |
| ENST00000679815.1:c.*1161C>A (DLAT) | ENSP00000504880.1:n.*1161C>A | |
| ENST00000679878.1:c.1695C>A (DLAT) | ENSP00000505567.1:p.Phe565Leu | |
| ENST00000680010.1:c.*869C>A (DLAT) | ENSP00000505768.1:n.*869C>A | |
| ENST00000680154.1:n.1059C>A (DLAT) | ||
| ENST00000680331.1:c.1449C>A (DLAT) | ENSP00000506707.1:p.Phe483Leu | |
| ENST00000680411.1:c.1473C>A (DLAT) | ENSP00000505915.1:p.Phe491Leu | |
| ENST00000681316.1:c.1722C>A (DLAT) | ENSP00000506560.1:p.Phe574Leu | |
| ENST00000681328.1:c.1707C>A (DLAT) | ENSP00000506355.1:p.Phe569Leu | |
| ENST00000681339.1:c.1620C>A (DLAT) | ENSP00000506167.1:p.Phe540Leu | |
| ENST00000681638.1:c.*1081C>A (DLAT) | ENSP00000506090.1:n.*1081C>A | |
| ENST00000280346.10:c.1728C>A (DLAT) | ENSP00000280346.6:p.Phe576Leu | |
| ENST00000393051.5:c.1413C>A (DLAT) | ENSP00000376771.1:p.Phe471Leu | |
| ENST00000527231.1:n.122C>A (DLAT) | ||
| ENST00000531306.1:c.1224C>A (DLAT) | ENSP00000433432.1:p.Phe408Leu | |
| ENST00000533297.1:c.*1403C>A (DLAT) | ENSP00000435374.1:n.*1403C>A | |
| NM_001931.4:c.1728C>A (DLAT) | NP_001922.2:p.Phe576Leu | |
| XM_011542590.1:c.814-294G>T (PIH1D2) | XP_011540892.1:n.814-294G>T | |
| XM_011542592.1:c.814-8401G>T (PIH1D2) | XP_011540894.1:n.814-8401G>T | |
| XM_011542647.1:c.1620C>A (DLAT) | XP_011540949.1:p.Phe540Leu | |
| XM_011542647.3:c.1620C>A (DLAT) | XP_011540949.1:p.Phe540Leu | |
| XM_017017202.2:c.814-5308G>T (PIH1D2) | XP_016872691.1:n.814-5308G>T | |
| XM_017017203.2:c.814-294G>T (PIH1D2) | XP_016872692.1:n.814-294G>T | |
| XM_017017204.2:c.814-5337G>T (PIH1D2) | XP_016872693.1:n.814-5337G>T | |
| XM_017017205.2:c.814-8401G>T (PIH1D2) | XP_016872694.1:n.814-8401G>T | |
| NM_001372031.1:c.1746C>A (DLAT) | NP_001358960.1:p.Phe582Leu | |
| NM_001372032.1:c.1722C>A (DLAT) | NP_001358961.1:p.Phe574Leu | |
| NM_001372033.1:c.1707C>A (DLAT) | NP_001358962.1:p.Phe569Leu | |
| NM_001372034.1:c.1695C>A (DLAT) | NP_001358963.1:p.Phe565Leu | |
| NM_001372035.1:c.1620C>A (DLAT) | NP_001358964.1:p.Phe540Leu | |
| NM_001372036.1:c.1602C>A (DLAT) | NP_001358965.1:p.Phe534Leu | |
| NM_001372037.1:c.1560C>A (DLAT) | NP_001358966.1:p.Phe520Leu | |
| NM_001372038.1:c.1449C>A (DLAT) | NP_001358967.1:p.Phe483Leu | |
| NM_001372039.1:c.1413C>A (DLAT) | NP_001358968.1:p.Phe471Leu | |
| NM_001372040.1:c.1347C>A (DLAT) | NP_001358969.1:p.Phe449Leu | |
| NM_001372041.1:c.1305C>A (DLAT) | NP_001358970.1:p.Phe435Leu | |
| NM_001372042.1:c.1266C>A (DLAT) | NP_001358971.1:p.Phe422Leu | |
| NM_001931.5:c.1728C>A (DLAT) MANE Select | NP_001922.2:p.Phe576Leu | |
| NR_164072.1:n.1605C>A (DLAT) |