Revel Score:
ENST00000357249
0.209
ENST00000359125 (MANE Select)
0.209
ENST00000370226
0.209
ENST00000354587
0.209
ENST00000359689
0.209
ENST00000430658
0.209
ENST00000360480
0.209
ENST00000344462
0.209
ENST00000370224
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001572 (NFE)
Exomes Max Group AF
0.00001669 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406708G>A , CM000682.2:g.63406708G>A | GRCh38 |
| NC_000020.10:g.62038061G>A , CM000682.1:g.62038061G>A | GRCh37 |
| NC_000020.9:g.61508505G>A | NCBI36 |
| NG_009004.1:g.70933C>T | |
| NG_009004.2:g.70933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2609C>T | ENSP00000516702.1:p.Pro870Leu | |
| ENST00000359125.7:c.2555C>T MANE Select | ENSP00000352035.2:p.Pro852Leu | |
| ENST00000637193.1:c.1952C>T | ENSP00000490734.1:p.Pro651Leu | |
| ENST00000344462.8:c.2462C>T | ENSP00000339611.4:p.Pro821Leu | |
| ENST00000357249.6:c.2123C>T | ENSP00000349789.3:p.Pro708Leu | |
| ENST00000359125.6:c.2555C>T | ENSP00000352035.2:p.Pro852Leu | |
| ENST00000360480.7:c.2471C>T | ENSP00000353668.3:p.Pro824Leu | |
| ENST00000370224.5:c.2241+338C>T | ENSP00000359244.2:n.2241+338C>T | |
| ENST00000625514.2:c.2205+338C>T | ENSP00000486040.1:n.2205+338C>T | |
| ENST00000626839.2:c.2501C>T | ENSP00000486706.1:p.Pro834Leu | |
| ENST00000629241.2:c.2133+338C>T | ENSP00000487142.1:n.2133+338C>T | |
| ENST00000629676.2:c.1680-5865C>T | ENSP00000486194.1:n.1680-5865C>T | |
| NM_004518.4:c.2471C>T | NP_004509.2:p.Pro824Leu | |
| NM_172106.1:c.2501C>T | NP_742104.1:p.Pro834Leu | |
| NM_172107.2:c.2555C>T | NP_742105.1:p.Pro852Leu | |
| NM_172108.3:c.2462C>T | NP_742106.1:p.Pro821Leu | |
| XM_006723787.1:c.2597C>T | XP_006723850.1:p.Pro866Leu | |
| XM_011528807.1:c.2663C>T | XP_011527109.1:p.Pro888Leu | |
| XM_011528808.1:c.2660C>T | XP_011527110.1:p.Pro887Leu | |
| XM_011528809.1:c.2633C>T | XP_011527111.1:p.Pro878Leu | |
| XM_011528810.1:c.2609C>T | XP_011527112.1:p.Pro870Leu | |
| XM_011528811.1:c.2579C>T | XP_011527113.1:p.Pro860Leu | |
| XM_011528812.1:c.2552C>T | XP_011527114.1:p.Pro851Leu | |
| XM_011528813.1:c.2537C>T | XP_011527115.1:p.Pro846Leu | |
| XM_011528814.1:c.2144C>T | XP_011527116.1:p.Pro715Leu | |
| NM_004518.5:c.2471C>T | NP_004509.2:p.Pro824Leu | |
| NM_172106.2:c.2501C>T | NP_742104.1:p.Pro834Leu | |
| NM_172107.3:c.2555C>T | NP_742105.1:p.Pro852Leu | |
| NM_172108.4:c.2462C>T | NP_742106.1:p.Pro821Leu | |
| XM_011528810.2:c.2609C>T | XP_011527112.1:p.Pro870Leu | |
| XM_011528811.2:c.2579C>T | XP_011527113.1:p.Pro860Leu | |
| XM_017027841.2:c.2606C>T | XP_016883330.1:p.Pro869Leu | |
| XM_017027842.2:c.2543C>T | XP_016883331.1:p.Pro848Leu | |
| XM_017027843.1:c.2540C>T | XP_016883332.1:p.Pro847Leu | |
| XM_017027844.2:c.2498C>T | XP_016883333.1:p.Pro833Leu | |
| XM_017027845.1:c.1571C>T | XP_016883334.1:p.Pro524Leu | |
| NM_004518.6:c.2471C>T | NP_004509.2:p.Pro824Leu | |
| NM_172106.3:c.2501C>T | NP_742104.1:p.Pro834Leu | |
| NM_172107.4:c.2555C>T MANE Select | NP_742105.1:p.Pro852Leu | |
| NM_172108.5:c.2462C>T | NP_742106.1:p.Pro821Leu | |
| NM_001382235.1:c.2609C>T | NP_001369164.1:p.Pro870Leu |