Linked Data
dbSNP Id:
rs1754565133
gnomAD v4:
5-148131291-G-A
MyVariant Identifiers:
chr5:g.147510854G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131291G>A , CM000667.2:g.148131291G>A | GRCh38 |
| NC_000005.9:g.147510854G>A , CM000667.1:g.147510854G>A | GRCh37 |
| NC_000005.8:g.147491047G>A | NCBI36 |
| NG_009633.1:g.72320G>A , LRG_110:g.72320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2997G>A MANE Select | ENSP00000256084.7:p.Leu999= | |
| ENST00000256084.7:c.2997G>A | ENSP00000256084.7:p.Leu999= | |
| ENST00000359874.7:c.3087G>A | ENSP00000352936.3:p.Leu1029= | |
| NM_001127698.1:c.3087G>A | NP_001121170.1:p.Leu1029= | |
| NM_006846.3:c.2997G>A , LRG_110t1:c.2997G>A | NP_006837.2:p.Leu999= | |
| XM_011537550.1:c.3030G>A | XP_011535852.1:p.Leu1010= | |
| XM_011537551.1:c.3003G>A | XP_011535853.1:p.Leu1001= | |
| XM_011537551.2:c.3003G>A | XP_011535853.1:p.Leu1001= | |
| NM_001127698.2:c.3087G>A | NP_001121170.1:p.Leu1029= | |
| NM_006846.4:c.2997G>A MANE Select | NP_006837.2:p.Leu999= |