Linked Data
ClinVar Variation Id:
372194
ClinVar RCV Id:
RCV000412613
dbSNP Id:
rs1057519414
PubMed:
PMID:26741492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240005219A>G , CM000664.2:g.240005219A>G | GRCh38 |
| NC_000002.11:g.240944636A>G , CM000664.1:g.240944636A>G | GRCh37 |
| NC_000002.10:g.240593309A>G | NCBI36 |
| NG_031855.1:g.25184T>C | |
| NG_031855.2:g.25184T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252711.7:c.881T>C MANE Select | ENSP00000252711.2:p.Leu294Pro | |
| ENST00000414580.2:c.*3469T>C | ENSP00000388413.2:n.*3469T>C | |
| ENST00000444548.6:c.881T>C | ENSP00000403080.2:p.Leu294Pro | |
| ENST00000448880.6:c.881T>C | ENSP00000408224.2:p.Leu294Pro | |
| ENST00000476216.6:n.4020T>C | ||
| ENST00000620965.5:c.929T>C | ENSP00000480897.2:p.Leu310Pro | |
| ENST00000676491.1:c.881T>C | ENSP00000504528.1:p.Leu294Pro | |
| ENST00000676782.1:c.881T>C | ENSP00000504717.1:p.Leu294Pro | |
| ENST00000676784.1:n.4009T>C | ||
| ENST00000676929.1:c.881T>C | ENSP00000503956.1:p.Leu294Pro | |
| ENST00000677057.1:n.4019T>C | ||
| ENST00000677114.1:c.*70T>C | ENSP00000504818.1:n.*70T>C | |
| ENST00000677155.1:c.*70T>C | ENSP00000502921.1:n.*70T>C | |
| ENST00000677263.1:c.881T>C | ENSP00000503790.1:p.Leu294Pro | |
| ENST00000677294.1:c.707T>C | ENSP00000503461.1:p.Leu236Pro | |
| ENST00000677368.1:c.*70T>C | ENSP00000502983.1:n.*70T>C | |
| ENST00000677395.1:c.*2577T>C | ENSP00000502890.1:n.*2577T>C | |
| ENST00000677407.1:c.881T>C | ENSP00000503141.1:p.Leu294Pro | |
| ENST00000677490.1:c.881T>C | ENSP00000503255.1:p.Leu294Pro | |
| ENST00000677567.1:c.881T>C | ENSP00000503217.1:p.Leu294Pro | |
| ENST00000677692.1:n.4019T>C | ||
| ENST00000677764.1:c.881T>C | ENSP00000504547.1:p.Leu294Pro | |
| ENST00000677979.1:c.*360T>C | ENSP00000503341.1:n.*360T>C | |
| ENST00000678158.1:c.881T>C | ENSP00000504765.1:p.Leu294Pro | |
| ENST00000678188.1:n.4102T>C | ||
| ENST00000678289.1:c.881T>C | ENSP00000504063.1:p.Leu294Pro | |
| ENST00000678455.1:c.878T>C | ENSP00000504395.1:p.Leu293Pro | |
| ENST00000678468.1:c.*214T>C | ENSP00000503925.1:n.*214T>C | |
| ENST00000678562.1:c.*3716T>C | ENSP00000502954.1:n.*3716T>C | |
| ENST00000678737.1:c.881T>C | ENSP00000503770.1:p.Leu294Pro | |
| ENST00000678832.1:c.*537T>C | ENSP00000502992.1:n.*537T>C | |
| ENST00000678898.1:n.4019T>C | ||
| ENST00000678914.1:c.779T>C | ENSP00000504515.1:p.Leu260Pro | |
| ENST00000679158.1:c.881T>C | ENSP00000503837.1:p.Leu294Pro | |
| ENST00000679183.1:c.881T>C | ENSP00000503016.1:p.Leu294Pro | |
| ENST00000679308.1:c.881T>C | ENSP00000503148.1:p.Leu294Pro | |
| ENST00000679332.1:n.4019T>C | ||
| ENST00000252711.6:c.881T>C | ENSP00000252711.2:p.Leu294Pro | |
| ENST00000307300.8:c.971T>C | ENSP00000302321.4:p.Leu324Pro | |
| ENST00000404554.5:c.881T>C | ENSP00000385697.1:p.Leu294Pro | |
| ENST00000419408.5:c.176T>C | ENSP00000408055.1:p.Leu59Pro | |
| ENST00000443626.5:c.602+2097T>C | ENSP00000411527.1:n.602+2097T>C | |
| ENST00000444548.5:c.192T>C | ||
| ENST00000448880.5:c.170T>C | ENSP00000408224.1:p.Leu57Pro | |
| ENST00000476216.5:n.243T>C | ||
| ENST00000485344.6:n.3945T>C | ||
| ENST00000620965.4:c.881T>C | ENSP00000480897.1:p.Leu294Pro | |
| NM_004544.3:c.881T>C | NP_004535.1:p.Leu294Pro | |
| XM_006712543.1:c.881T>C | XP_006712606.1:p.Leu294Pro | |
| XM_011511228.1:c.881T>C | XP_011509530.1:p.Leu294Pro | |
| XM_011511229.1:c.881T>C | XP_011509531.1:p.Leu294Pro | |
| NM_001322019.1:c.881T>C | NP_001308948.1:p.Leu294Pro | |
| NM_001322020.1:c.881T>C | NP_001308949.1:p.Leu294Pro | |
| NR_136155.1:n.4024T>C | ||
| NR_136156.1:n.4024T>C | ||
| NR_136157.1:n.3855T>C | ||
| NR_136158.1:n.4024T>C | ||
| XM_011511228.3:c.881T>C | XP_011509530.1:p.Leu294Pro | |
| XR_001738750.2:n.923T>C | ||
| NM_004544.4:c.881T>C MANE Select | NP_004535.1:p.Leu294Pro | |
| NM_001322020.2:c.881T>C | NP_001308949.1:p.Leu294Pro | |
| NR_136155.2:n.3964T>C | ||
| NR_136156.2:n.3964T>C | ||
| NR_136157.2:n.3795T>C | ||
| NR_136158.2:n.3964T>C | ||
| NM_001322019.2:c.881T>C | NP_001308948.1:p.Leu294Pro |