Linked Data
ClinVar Variation Id:
30112
ClinVar RCV Id:
RCV000023020
dbSNP Id:
rs387906773
PubMed:
PMID:14607454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173235040T>A , CM000667.2:g.173235040T>A | GRCh38 |
| NC_000005.9:g.172662043T>A , CM000667.1:g.172662043T>A | GRCh37 |
| NC_000005.8:g.172594649T>A | NCBI36 |
| NG_013340.1:g.5273A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329198.5:c.44A>T MANE Select | ENSP00000327758.4:p.Lys15Ile | |
| ENST00000329198.4:c.44A>T | ENSP00000327758.4:p.Lys15Ile | |
| ENST00000424406.2:c.44A>T | ENSP00000395378.2:p.Lys15Ile | |
| ENST00000517440.1:c.44A>T | ENSP00000429905.1:p.Lys15Ile | |
| ENST00000521848.1:c.44A>T | ENSP00000427906.1:p.Lys15Ile | |
| NM_001166175.1:c.44A>T | NP_001159647.1:p.Lys15Ile | |
| NM_001166176.1:c.44A>T | NP_001159648.1:p.Lys15Ile | |
| NM_004387.3:c.44A>T | NP_004378.1:p.Lys15Ile | |
| XM_017009071.2:c.44A>T | XP_016864560.1:p.Lys15Ile | |
| NM_004387.4:c.44A>T MANE Select | NP_004378.1:p.Lys15Ile | |
| NM_001166175.2:c.44A>T | NP_001159647.1:p.Lys15Ile | |
| NM_001166176.2:c.44A>T | NP_001159648.1:p.Lys15Ile |