dbSNP:
gnomAD v4:
Revel Score:
ENST00000360608
0.841
ENST00000389970
0.841
ENST00000413640
0.841
ENST00000359033
0.841
ENST00000542856
0.841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126904A>G , CM000684.2:g.42126904A>G | GRCh38 |
| NC_000022.10:g.42522906A>G , CM000684.1:g.42522906A>G | GRCh37 |
| NC_000022.9:g.40852850A>G | NCBI36 |
| NG_008376.3:g.8088T>C | |
| NG_008376.4:g.8907T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1060T>C | ENSP00000353241.6:n.1060T>C | |
| ENST00000645361.2:c.1262T>C MANE Select | ENSP00000496150.1:p.Leu421Pro | |
| ENST00000359033.4:c.1109T>C | ENSP00000351927.4:p.Leu370Pro | |
| ENST00000360124.9:c.880T>C | ENSP00000353241.5:n.880T>C | |
| ENST00000360608.9:c.1262T>C | ENSP00000353820.5:p.Leu421Pro | |
| ENST00000389970.7:c.1253T>C | ENSP00000374620.4:p.Leu418Pro | |
| ENST00000488442.1:n.1986T>C | ||
| NM_000106.5:c.1262T>C | NP_000097.3:p.Leu421Pro | |
| NM_001025161.2:c.1109T>C | NP_001020332.2:p.Leu370Pro | |
| XM_011529966.1:c.1262T>C | XP_011528268.1:p.Leu421Pro | |
| XM_011529967.1:c.1262T>C | XP_011528269.1:p.Leu421Pro | |
| XM_011529968.1:c.1262T>C | XP_011528270.1:p.Leu421Pro | |
| XM_011529969.1:c.1118T>C | XP_011528271.1:p.Leu373Pro | |
| XM_011529970.1:c.1109T>C | XP_011528272.1:p.Leu370Pro | |
| XM_011529971.1:c.1118T>C | XP_011528273.1:p.Leu373Pro | |
| NM_000106.6:c.1262T>C MANE Select | NP_000097.3:p.Leu421Pro | |
| NM_001025161.3:c.1109T>C | NP_001020332.2:p.Leu370Pro |