Linked Data
ClinVar Variation Id:
191625
dbSNP Id:
rs786205361
gnomAD v2:
18-29099770-T-C
gnomAD v3:
18-31519807-T-C
gnomAD v4:
18-31519807-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31519807T>C , CM000680.2:g.31519807T>C | GRCh38 |
| NC_000018.9:g.29099770T>C , CM000680.1:g.29099770T>C | GRCh37 |
| NC_000018.8:g.27353768T>C | NCBI36 |
| NG_007072.3:g.26566T>C , LRG_397:g.26566T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682241.2:c.86T>C | ENSP00000507600.2:p.Leu29Ser | |
| ENST00000683654.1:c.86T>C | ENSP00000506971.1:p.Leu29Ser | |
| ENST00000261590.13:c.86T>C MANE Select | ENSP00000261590.8:p.Leu29Ser | |
| ENST00000261590.12:c.86T>C | ENSP00000261590.8:p.Leu29Ser | |
| ENST00000585206.1:c.86T>C | ENSP00000462503.1:p.Leu29Ser | |
| NM_001943.3:c.86T>C , LRG_397t1:c.86T>C | NP_001934.2:p.Leu29Ser | |
| NM_001943.4:c.86T>C | NP_001934.2:p.Leu29Ser | |
| XM_024451095.1:c.-449T>C | XP_024306863.1:n.-449T>C | |
| NM_001943.5:c.86T>C MANE Select | NP_001934.2:p.Leu29Ser |