Linked Data
dbSNP Id:
rs751704605
ExAC:
1:197060152 A / G
gnomAD v2:
1-197060152-A-G
gnomAD v4:
1-197091022-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091022A>G , CM000663.2:g.197091022A>G | GRCh38 |
| NC_000001.10:g.197060152A>G , CM000663.1:g.197060152A>G | GRCh37 |
| NC_000001.9:g.195326775A>G | NCBI36 |
| NG_015867.1:g.60673T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2751T>C | ||
| ENST00000367409.9:c.9464T>C MANE Select | ENSP00000356379.4:p.Leu3155Ser | |
| ENST00000680265.1:c.9686T>C | ENSP00000505384.1:p.Leu3229Ser | |
| ENST00000680710.1:c.9440T>C | ENSP00000506676.1:p.Leu3147Ser | |
| ENST00000294732.11:c.4709T>C | ENSP00000294732.7:p.Leu1570Ser | |
| ENST00000367408.5:c.2459T>C | ENSP00000356378.1:p.Leu820Ser | |
| ENST00000367409.8:c.9464T>C | ENSP00000356379.4:p.Leu3155Ser | |
| ENST00000612785.1:c.3422T>C | ENSP00000479244.1:p.Leu1141Ser | |
| NM_001206846.1:c.4709T>C | NP_001193775.1:p.Leu1570Ser | |
| NM_018136.4:c.9464T>C | NP_060606.3:p.Leu3155Ser | |
| NM_018136.5:c.9464T>C MANE Select | NP_060606.3:p.Leu3155Ser | |
| NM_001206846.2:c.4709T>C | NP_001193775.1:p.Leu1570Ser |