Linked Data
ClinVar Variation Id:
328755
dbSNP Id:
rs1007160
ExAC:
19:33353061 G / T
gnomAD v2:
19-33353061-G-T
gnomAD v3:
19-32862155-G-T
gnomAD v4:
19-32862155-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32862155G>T , CM000681.2:g.32862155G>T | GRCh38 |
| NC_000019.9:g.33353061G>T , CM000681.1:g.33353061G>T | GRCh37 |
| NC_000019.8:g.38044901G>T | NCBI36 |
| NG_008258.1:g.12623C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000023064.9:c.667C>A MANE Select | ENSP00000023064.3:p.Leu223Met | |
| ENST00000023064.8:c.667C>A | ENSP00000023064.3:p.Leu223Met | |
| ENST00000587772.1:c.667C>A | ENSP00000468439.1:p.Leu223Met | |
| ENST00000589659.1:n.612C>A | ||
| ENST00000590341.5:c.667C>A | ENSP00000464822.1:p.Leu223Met | |
| ENST00000590465.5:c.*211-1505C>A | ENSP00000468076.1:n.*211-1505C>A | |
| ENST00000592232.5:c.*211-1505C>A | ENSP00000465563.1:n.*211-1505C>A | |
| NM_001126335.1:c.667C>A | NP_001119807.1:p.Leu223Met | |
| NM_001243036.1:c.667C>A | NP_001229965.1:p.Leu223Met | |
| NM_014270.4:c.667C>A | NP_055085.1:p.Leu223Met | |
| XM_006722992.1:c.24-1505C>A | XP_006723055.1:n.24-1505C>A | |
| XM_011526402.1:c.667C>A | XP_011524704.1:p.Leu223Met | |
| XM_011526402.3:c.667C>A | XP_011524704.1:p.Leu223Met | |
| XM_017026230.1:c.403C>A | XP_016881719.1:p.Leu135Met | |
| XM_024451334.1:c.-564-1505C>A | XP_024307102.1:n.-564-1505C>A | |
| NM_014270.5:c.667C>A MANE Select | NP_055085.1:p.Leu223Met | |
| NM_001126335.2:c.667C>A | NP_001119807.1:p.Leu223Met | |
| NM_001243036.2:c.667C>A | NP_001229965.1:p.Leu223Met |