Linked Data
dbSNP Id:
rs1753763846
gnomAD v3:
5-151259901-G-A
gnomAD v4:
5-151259901-G-A
MyVariant Identifiers:
chr5:g.150639462G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259901G>A , CM000667.2:g.151259901G>A | GRCh38 |
| NC_000005.9:g.150639462G>A , CM000667.1:g.150639462G>A | GRCh37 |
| NC_000005.8:g.150619655G>A | NCBI36 |
| NG_009059.1:g.11850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.228G>A MANE Select | ENSP00000349687.3:p.Leu76= | |
| ENST00000357164.3:c.228G>A | ENSP00000349687.3:p.Leu76= | |
| ENST00000523004.1:c.103G>A | ||
| ENST00000523466.5:c.273G>A | ENSP00000429100.1:p.Leu91= | |
| NM_000405.4:c.228G>A | NP_000396.2:p.Leu76= | |
| NM_001167607.1:c.228G>A | NP_001161079.1:p.Leu76= | |
| NM_000405.5:c.228G>A MANE Select | NP_000396.2:p.Leu76= | |
| NM_001167607.2:c.228G>A | NP_001161079.1:p.Leu76= | |
| NM_001167607.3:c.228G>A | NP_001161079.1:p.Leu76= |