Revel Score:
ENST00000360228 (MANE Select)
0.270
ENST00000418012
0.270
ENST00000357018
0.270
ENST00000325084
0.270
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007312 (SAS)
Genomes Max Group AF
0.00001975 (NFE)
Exomes Max Group AF
0.00006996 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13208874G>A , CM000681.2:g.13208874G>A | GRCh38 |
| NC_000019.9:g.13319688G>A , CM000681.1:g.13319688G>A | GRCh37 |
| NC_000019.8:g.13180688G>A | NCBI36 |
| NG_011569.1:g.302587C>T , LRG_7:g.302587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6662C>T MANE Select | ENSP00000353362.5:p.Pro2221Leu | |
| ENST00000573710.7:c.6668C>T | ENSP00000460092.3:p.Pro2223Leu | |
| ENST00000585802.6:c.1787C>T | ENSP00000465598.2:p.Pro596Leu | |
| ENST00000635727.1:c.6665C>T | ENSP00000490001.1:p.Pro2222Leu | |
| ENST00000635895.1:c.6665C>T | ENSP00000490323.1:p.Pro2222Leu | |
| ENST00000636012.1:c.6629C>T | ENSP00000490223.1:p.Pro2210Leu | |
| ENST00000636389.1:c.6665C>T | ENSP00000489992.1:p.Pro2222Leu | |
| ENST00000636473.1:c.1532C>T | ENSP00000490173.1:p.Pro511Leu | |
| ENST00000636549.1:c.6671C>T | ENSP00000490578.1:p.Pro2224Leu | |
| ENST00000637276.1:c.6629C>T | ENSP00000489777.1:p.Pro2210Leu | |
| ENST00000637432.1:c.6680C>T | ENSP00000490617.1:p.Pro2227Leu | |
| ENST00000637736.1:c.6524C>T | ENSP00000489861.1:p.Pro2175Leu | |
| ENST00000637769.1:c.6665C>T | ENSP00000489778.1:p.Pro2222Leu | |
| ENST00000637927.1:c.6668C>T | ENSP00000489715.1:p.Pro2223Leu | |
| ENST00000638009.2:c.6665C>T | ENSP00000489913.1:p.Pro2222Leu | |
| ENST00000638029.1:c.6680C>T | ENSP00000489829.1:p.Pro2227Leu | |
| ENST00000664864.1:c.6866C>T | ENSP00000499449.1:p.Pro2289Leu | |
| ENST00000360228.9:c.6662C>T | ENSP00000353362.5:p.Pro2221Leu | |
| ENST00000573710.6:c.6665C>T | ENSP00000460092.2:p.Pro2222Leu | |
| ENST00000585802.5:c.2684C>T | ENSP00000465598.1:p.Pro895Leu | |
| ENST00000587525.5:c.2087C>T | ENSP00000467729.1:p.Pro696Leu | |
| ENST00000614285.4:c.6680C>T | ENSP00000479983.1:p.Pro2227Leu | |
| NM_000068.3:c.6680C>T | NP_000059.3:p.Pro2227Leu | |
| NM_001127221.1:c.6665C>T , LRG_7t1:c.6665C>T | NP_001120693.1:p.Pro2222Leu | |
| NM_001127222.1:c.6662C>T | NP_001120694.1:p.Pro2221Leu | |
| NM_001174080.1:c.6671C>T | NP_001167551.1:p.Pro2224Leu | |
| NM_023035.2:c.6680C>T | NP_075461.2:p.Pro2227Leu | |
| NM_000068.4:c.6680C>T | NP_000059.3:p.Pro2227Leu | |
| NM_001127222.2:c.6662C>T MANE Select | NP_001120694.1:p.Pro2221Leu | |
| NM_001174080.2:c.6671C>T | NP_001167551.1:p.Pro2224Leu | |
| NM_023035.3:c.6680C>T | NP_075461.2:p.Pro2227Leu | |
| NM_001127221.2:c.6665C>T | NP_001120693.1:p.Pro2222Leu |