Linked Data
ClinVar Variation Id:
2876604
ClinVar RCV Id:
RCV003710386
dbSNP Id:
rs769428592
ExAC:
2:215884509 A / T
gnomAD v2:
2-215884509-A-T
gnomAD v4:
2-215019785-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019785A>T , CM000664.2:g.215019785A>T | GRCh38 |
| NC_000002.11:g.215884509A>T , CM000664.1:g.215884509A>T | GRCh37 |
| NC_000002.10:g.215592754A>T | NCBI36 |
| NG_007074.1:g.123643T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1299T>A MANE Select | ENSP00000272895.7:p.Leu433= | |
| ENST00000272895.11:c.1299T>A | ENSP00000272895.7:p.Leu433= | |
| ENST00000389661.4:c.345T>A | ENSP00000374312.4:p.Leu115= | |
| NM_015657.3:c.345T>A | NP_056472.2:p.Leu115= | |
| NM_173076.2:c.1299T>A | NP_775099.2:p.Leu433= | |
| NR_103740.1:n.1543T>A | ||
| XM_011510951.1:c.1299T>A | XP_011509253.1:p.Leu433= | |
| XM_011510952.1:c.1299T>A | XP_011509254.1:p.Leu433= | |
| XM_011510951.2:c.1299T>A | XP_011509253.1:p.Leu433= | |
| NM_173076.3:c.1299T>A MANE Select | NP_775099.2:p.Leu433= | |
| NR_103740.2:n.1741T>A | ||
| NM_015657.4:c.345T>A | NP_056472.2:p.Leu115= |