Revel Score:
ENST00000374708
0.215
ENST00000341947 (MANE Select)
0.215
ENST00000357486
0.215
ENST00000374714
0.215
ENST00000374713
0.215
ENST00000395197
0.215
ENST00000374712
0.215
ENST00000361917
0.215
ENST00000395196
0.215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164856G>T , CM000668.2:g.33164856G>T | GRCh38 |
| NC_000006.11:g.33132633G>T , CM000668.1:g.33132633G>T | GRCh37 |
| NC_000006.10:g.33240611G>T | NCBI36 |
| NG_011589.1:g.32613C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.665C>A | ||
| ENST00000341947.7:c.4859C>A MANE Select | ENSP00000339915.2:p.Thr1620Lys | |
| ENST00000341947.6:c.4859C>A | ENSP00000339915.2:p.Thr1620Lys | |
| ENST00000361917.5:c.4538C>A | ENSP00000355123.1:p.Thr1513Lys | |
| ENST00000374708.8:c.4601C>A | ENSP00000363840.4:p.Thr1534Lys | |
| ENST00000477772.1:n.649C>A | ||
| NM_080679.2:c.4538C>A | NP_542410.2:p.Thr1513Lys | |
| NM_080680.2:c.4859C>A | NP_542411.2:p.Thr1620Lys | |
| NM_080681.2:c.4601C>A | NP_542412.2:p.Thr1534Lys | |
| XM_011514298.1:c.4013C>A | XP_011512600.1:p.Thr1338Lys | |
| XM_011514299.1:c.4145C>A | XP_011512601.1:p.Thr1382Lys | |
| XM_011514300.1:c.3965C>A | XP_011512602.1:p.Thr1322Lys | |
| XM_011514301.1:c.3902C>A | XP_011512603.1:p.Thr1301Lys | |
| XM_011514302.1:c.3746C>A | XP_011512604.1:p.Thr1249Lys | |
| XM_011514299.2:c.4145C>A | XP_011512601.1:p.Thr1382Lys | |
| XM_011514300.2:c.3965C>A | XP_011512602.1:p.Thr1322Lys | |
| XM_011514302.2:c.3746C>A | XP_011512604.1:p.Thr1249Lys | |
| XM_017010250.1:c.4859C>A | XP_016865739.1:p.Thr1620Lys | |
| XM_017010251.2:c.3677C>A | XP_016865740.1:p.Thr1226Lys | |
| NM_080680.3:c.4859C>A MANE Select | NP_542411.2:p.Thr1620Lys | |
| NM_080681.3:c.4601C>A | NP_542412.2:p.Thr1534Lys | |
| NM_080679.3:c.4538C>A | NP_542410.2:p.Thr1513Lys |