gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148628C>G , CM000663.2:g.16148628C>G | GRCh38 |
| NC_000001.10:g.16475123C>G , CM000663.1:g.16475123C>G | GRCh37 |
| NC_000001.9:g.16347710C>G | NCBI36 |
| NG_021396.1:g.12460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.573G>C MANE Select | ENSP00000351209.5:p.Leu191= | |
| ENST00000358432.7:c.573G>C | ENSP00000351209.5:p.Leu191= | |
| ENST00000461614.1:n.625G>C | ||
| NM_004431.3:c.573G>C | NP_004422.2:p.Leu191= | |
| NM_001329090.1:c.411G>C | NP_001316019.1:p.Leu137= | |
| NM_004431.4:c.573G>C | NP_004422.2:p.Leu191= | |
| XM_017000537.1:c.573G>C | XP_016856026.1:p.Leu191= | |
| NM_004431.5:c.573G>C MANE Select | NP_004422.2:p.Leu191= | |
| NM_001329090.2:c.411G>C | NP_001316019.1:p.Leu137= |