Linked Data
dbSNP Id:
rs1452036491
gnomAD v2:
19-3595892-T-G
gnomAD v3:
19-3595894-T-G
gnomAD v4:
19-3595894-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595894T>G , CM000681.2:g.3595894T>G | GRCh38 |
| NC_000019.9:g.3595892T>G , CM000681.1:g.3595892T>G | GRCh37 |
| NC_000019.8:g.3546892T>G | NCBI36 |
| NG_013363.1:g.15940A>C , LRG_578:g.15940A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.826A>C MANE Select | ENSP00000364336.4:p.Met276Leu | |
| ENST00000375190.8:c.826A>C | ENSP00000364336.3:p.Met276Leu | |
| ENST00000411851.3:c.826A>C | ENSP00000393333.2:p.Met276Leu | |
| ENST00000589966.1:c.437A>C | ENSP00000468145.1:p.His146Pro | |
| NM_001060.5:c.826A>C , LRG_578t1:c.826A>C | NP_001051.1:p.Met276Leu | |
| NM_201636.2:c.826A>C | NP_963998.2:p.Met276Leu | |
| XM_011528214.1:c.826A>C | XP_011526516.1:p.Met276Leu | |
| XM_011528214.2:c.826A>C | XP_011526516.1:p.Met276Leu | |
| NM_001060.6:c.826A>C MANE Select | NP_001051.1:p.Met276Leu | |
| NM_201636.3:c.826A>C | NP_963998.2:p.Met276Leu |