Linked Data
ClinVar Variation Id:
2157028
ClinVar RCV Id:
RCV003077882
dbSNP Id:
rs934059355
gnomAD v2:
2-15358951-G-A
gnomAD v3:
2-15218827-G-A
gnomAD v4:
2-15218827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218827G>A , CM000664.2:g.15218827G>A | GRCh38 |
| NC_000002.11:g.15358951G>A , CM000664.1:g.15358951G>A | GRCh37 |
| NC_000002.10:g.15276402G>A | NCBI36 |
| NG_032964.1:g.347522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4364C>T | ||
| ENST00000700062.1:c.4426+13595C>T | ||
| ENST00000700063.1:c.889C>T | ||
| ENST00000700064.1:c.2234C>T | ||
| ENST00000281513.10:c.6378C>T MANE Select | ENSP00000281513.5:p.Leu2126= | |
| ENST00000281513.9:c.6378C>T | ENSP00000281513.5:p.Leu2126= | |
| ENST00000417461.5:c.512+13595C>T | ENSP00000392421.1:n.512+13595C>T | |
| ENST00000442506.5:c.3521C>T | ||
| NM_015909.3:c.6378C>T | NP_056993.2:p.Leu2126= | |
| NR_052013.2:n.6280+13595C>T | ||
| XM_011510357.1:c.6249C>T | XP_011508659.1:p.Leu2083= | |
| XM_011510358.1:c.6378C>T | XP_011508660.1:p.Leu2126= | |
| XM_011510359.1:c.5739C>T | XP_011508661.1:p.Leu1913= | |
| XM_011510360.1:c.4179C>T | XP_011508662.1:p.Leu1393= | |
| XM_011510361.1:c.4170C>T | XP_011508663.1:p.Leu1390= | |
| XM_011510357.2:c.6249C>T | XP_011508659.1:p.Leu2083= | |
| XM_011510358.2:c.6378C>T | XP_011508660.1:p.Leu2126= | |
| XM_011510360.2:c.4179C>T | XP_011508662.1:p.Leu1393= | |
| XM_011510361.2:c.4170C>T | XP_011508663.1:p.Leu1390= | |
| XM_017004317.1:c.6378C>T | XP_016859806.1:p.Leu2126= | |
| XM_024452961.1:c.5739C>T | XP_024308729.1:p.Leu1913= | |
| NM_015909.4:c.6378C>T MANE Select | NP_056993.2:p.Leu2126= | |
| NR_052013.3:n.6266+13595C>T |