Linked Data
dbSNP Id:
rs555138530
gnomAD v2:
9-140093807-G-A
gnomAD v3:
9-137199355-G-A
gnomAD v4:
9-137199355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199355G>A , CM000671.2:g.137199355G>A | GRCh38 |
| NC_000009.11:g.140093807G>A , CM000671.1:g.140093807G>A | GRCh37 |
| NC_000009.10:g.139213628G>A | NCBI36 |
| NG_027801.1:g.6357C>T | |
| NG_027801.2:g.9839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1357C>T MANE Select | ENSP00000387100.4:p.Leu453= | |
| ENST00000333046.8:c.751C>T | ENSP00000327617.4:p.Leu251= | |
| ENST00000409012.4:c.1357C>T | ENSP00000387100.4:p.Leu453= | |
| ENST00000541945.1:n.90+4749C>T | ||
| NM_001128228.2:c.1357C>T | NP_001121700.2:p.Leu453= | |
| NM_001128228.3:c.1357C>T MANE Select | NP_001121700.2:p.Leu453= |