Revel Score:
ENST00000272321 (MANE Select)
0.616
ENST00000409562
0.616
ENST00000431065
0.616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63492856C>G , CM000664.2:g.63492856C>G | GRCh38 |
| NC_000002.11:g.63719990C>G , CM000664.1:g.63719990C>G | GRCh37 |
| NC_000002.10:g.63573494C>G | NCBI36 |
| NG_028144.1:g.100878G>C | |
| NG_028144.2:g.352970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.160G>C MANE Select | ENSP00000272321.7:p.Asp54His | |
| ENST00000272321.11:c.160G>C | ENSP00000272321.7:p.Asp54His | |
| ENST00000409562.7:c.160G>C | ENSP00000387222.3:p.Asp54His | |
| ENST00000409835.5:n.407G>C | ||
| ENST00000417238.5:c.*271G>C | ENSP00000411429.1:n.*271G>C | |
| ENST00000418148.5:c.155G>C | ||
| ENST00000431065.1:c.160G>C | ENSP00000396226.1:p.Asp54His | |
| ENST00000467687.1:n.573G>C | ||
| ENST00000490935.5:n.668G>C | ||
| NM_015910.5:c.160G>C | NP_056994.3:p.Asp54His | |
| XM_005264348.2:c.160G>C | XP_005264405.1:p.Asp54His | |
| XM_011532881.1:c.88G>C | XP_011531183.1:p.Asp30His | |
| XM_011532882.1:c.61G>C | XP_011531184.1:p.Asp21His | |
| XM_011532883.1:c.160G>C | XP_011531185.1:p.Asp54His | |
| XM_011532884.1:c.160G>C | XP_011531186.1:p.Asp54His | |
| XM_011532885.1:c.160G>C | XP_011531187.1:p.Asp54His | |
| XM_011532886.1:c.160G>C | XP_011531188.1:p.Asp54His | |
| XM_011532887.1:c.160G>C | XP_011531189.1:p.Asp54His | |
| XM_011532888.1:c.160G>C | XP_011531190.1:p.Asp54His | |
| XM_011532889.1:c.160G>C | XP_011531191.1:p.Asp54His | |
| XM_011532890.1:c.160G>C | XP_011531192.1:p.Asp54His | |
| XM_011532891.1:c.88G>C | XP_011531193.1:p.Asp30His | |
| XR_244934.1:n.407G>C | ||
| XR_244935.1:n.407G>C | ||
| XR_939686.1:n.407G>C | ||
| NM_001354044.1:c.88G>C | NP_001340973.1:p.Asp30His | |
| NM_001354045.1:c.160G>C | NP_001340974.1:p.Asp54His | |
| NM_015910.6:c.160G>C | NP_056994.3:p.Asp54His | |
| NR_148704.1:n.940G>C | ||
| NR_148705.1:n.688G>C | ||
| XM_005264348.4:c.160G>C | XP_005264405.1:p.Asp54His | |
| XM_011532881.3:c.88G>C | XP_011531183.1:p.Asp30His | |
| XM_011532884.3:c.160G>C | XP_011531186.1:p.Asp54His | |
| XM_011532887.3:c.160G>C | XP_011531189.1:p.Asp54His | |
| XM_011532890.3:c.160G>C | XP_011531192.1:p.Asp54His | |
| XM_011532891.2:c.88G>C | XP_011531193.1:p.Asp30His | |
| XM_017004253.2:c.160G>C | XP_016859742.1:p.Asp54His | |
| XM_017004254.2:c.160G>C | XP_016859743.1:p.Asp54His | |
| XR_001738759.2:n.622G>C | ||
| XR_001738760.2:n.622G>C | ||
| XR_002959303.1:n.622G>C | ||
| XR_244934.3:n.622G>C | ||
| NM_015910.7:c.160G>C MANE Select | NP_056994.3:p.Asp54His | |
| NM_001354044.2:c.88G>C | NP_001340973.1:p.Asp30His | |
| NM_001354045.2:c.160G>C | NP_001340974.1:p.Asp54His | |
| NR_148704.2:n.618G>C | ||
| NR_148705.2:n.366G>C |