Linked Data
ClinVar Variation Id:
2806171
ClinVar RCV Id:
RCV003679591
dbSNP Id:
rs1367747191
gnomAD v2:
2-215884443-G-A
gnomAD v3:
2-215019719-G-A
gnomAD v4:
2-215019719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019719G>A , CM000664.2:g.215019719G>A | GRCh38 |
| NC_000002.11:g.215884443G>A , CM000664.1:g.215884443G>A | GRCh37 |
| NC_000002.10:g.215592688G>A | NCBI36 |
| NG_007074.1:g.123709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1365C>T MANE Select | ENSP00000272895.7:p.Leu455= | |
| ENST00000272895.11:c.1365C>T | ENSP00000272895.7:p.Leu455= | |
| ENST00000389661.4:c.411C>T | ENSP00000374312.4:p.Leu137= | |
| NM_015657.3:c.411C>T | NP_056472.2:p.Leu137= | |
| NM_173076.2:c.1365C>T | NP_775099.2:p.Leu455= | |
| NR_103740.1:n.1609C>T | ||
| XM_011510951.1:c.1365C>T | XP_011509253.1:p.Leu455= | |
| XM_011510952.1:c.1365C>T | XP_011509254.1:p.Leu455= | |
| XM_011510951.2:c.1365C>T | XP_011509253.1:p.Leu455= | |
| NM_173076.3:c.1365C>T MANE Select | NP_775099.2:p.Leu455= | |
| NR_103740.2:n.1807C>T | ||
| NM_015657.4:c.411C>T | NP_056472.2:p.Leu137= |