Linked Data
ClinVar Variation Id:
5251
dbSNP Id:
rs74315436
ExAC:
20:25062683 A / G
gnomAD v2:
20-25062683-A-G
gnomAD v3:
20-25082047-A-G
gnomAD v4:
20-25082047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25082047A>G , CM000682.2:g.25082047A>G | GRCh38 |
| NC_000020.10:g.25062683A>G , CM000682.1:g.25062683A>G | GRCh37 |
| NC_000020.9:g.25010683A>G | NCBI36 |
| NG_008101.1:g.5085T>C | |
| NG_008101.2:g.5085T>C | |
| NG_008101.3:g.5135T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376709.9:c.50T>C MANE Select | ENSP00000365899.3:p.Leu17Pro | |
| ENST00000376707.4:c.50T>C | ENSP00000365897.3:p.Leu17Pro | |
| ENST00000376709.8:c.50T>C | ENSP00000365899.3:p.Leu17Pro | |
| ENST00000409285.6:c.50T>C | ENSP00000386612.2:p.Leu17Pro | |
| ENST00000409958.6:c.50T>C | ENSP00000387069.2:p.Leu17Pro | |
| ENST00000429762.7:c.50T>C | ENSP00000401690.3:p.Leu17Pro | |
| ENST00000444511.6:c.50T>C | ENSP00000387720.2:p.Leu17Pro | |
| NM_001256271.1:c.50T>C | NP_001243200.1:p.Leu17Pro | |
| NM_001256272.1:c.50T>C | NP_001243201.1:p.Leu17Pro | |
| NM_014588.5:c.50T>C | NP_055403.2:p.Leu17Pro | |
| NM_199425.2:c.50T>C | NP_955457.1:p.Leu17Pro | |
| NR_045948.1:n.333T>C | ||
| NR_045951.1:n.333T>C | ||
| XM_017027837.1:c.50T>C | XP_016883326.1:p.Leu17Pro | |
| XM_017027838.1:c.50T>C | XP_016883327.1:p.Leu17Pro | |
| NM_014588.6:c.50T>C MANE Select | NP_055403.2:p.Leu17Pro | |
| NM_001256271.2:c.50T>C | NP_001243200.1:p.Leu17Pro | |
| NM_001256272.2:c.50T>C | NP_001243201.1:p.Leu17Pro | |
| NM_199425.3:c.50T>C | NP_955457.1:p.Leu17Pro | |
| NR_045948.2:n.95T>C | ||
| NR_045951.2:n.95T>C |