Linked Data
dbSNP Id:
rs1353973129
gnomAD v2:
4-184210704-G-A
gnomAD v3:
4-183289551-G-A
gnomAD v4:
4-183289551-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289551G>A , CM000666.2:g.183289551G>A | GRCh38 |
| NC_000004.11:g.184210704G>A , CM000666.1:g.184210704G>A | GRCh37 |
| NC_000004.10:g.184447698G>A | NCBI36 |
| NG_051586.1:g.195917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3300G>A MANE Select | ENSP00000384222.3:p.Leu1100= | |
| ENST00000403733.7:c.3300G>A | ENSP00000384222.3:p.Leu1100= | |
| ENST00000427431.5:c.*2692G>A | ENSP00000393342.1:n.*2692G>A | |
| ENST00000438543.5:c.*1096G>A | ENSP00000413521.1:n.*1096G>A | |
| ENST00000448232.6:c.3372G>A | ENSP00000398577.2:p.Leu1124= | |
| ENST00000504005.5:c.2346G>A | ENSP00000427569.1:p.Leu782= | |
| ENST00000508747.1:c.684G>A | ENSP00000420835.1:p.Leu228= | |
| ENST00000513834.5:c.3153G>A | ENSP00000425054.1:p.Leu1051= | |
| NM_024949.5:c.3300G>A | NP_079225.5:p.Leu1100= | |
| XM_011532269.1:c.3372G>A | XP_011530571.1:p.Leu1124= | |
| XM_011532269.3:c.3372G>A | XP_011530571.1:p.Leu1124= | |
| XM_024454225.1:c.3078G>A | XP_024309993.1:p.Leu1026= | |
| NM_024949.6:c.3300G>A MANE Select | NP_079225.5:p.Leu1100= |