Linked Data
ClinVar Variation Id:
454729
ClinVar RCV Id:
RCV000549379
dbSNP Id:
rs1554033862
gnomAD v4:
5-13751121-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13751121A>T , CM000667.2:g.13751121A>T | GRCh38 |
| NC_000005.9:g.13751230A>T , CM000667.1:g.13751230A>T | GRCh37 |
| NC_000005.8:g.13804230A>T | NCBI36 |
| NG_013081.1:g.198360T>A | |
| NG_013081.2:g.198360T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11168T>A MANE Select | ENSP00000265104.4:p.Leu3723Gln | |
| ENST00000681290.1:c.11123T>A | ENSP00000505288.1:p.Leu3708Gln | |
| ENST00000265104.4:c.11168T>A | ENSP00000265104.4:p.Leu3723Gln | |
| NM_001369.2:c.11168T>A | NP_001360.1:p.Leu3723Gln | |
| XM_005248262.2:c.11123T>A | XP_005248319.1:p.Leu3708Gln | |
| XM_005248262.3:c.11276T>A | XP_005248319.2:p.Leu3759Gln | |
| XM_017009177.1:c.11276T>A | XP_016864666.1:p.Leu3759Gln | |
| XM_017009178.1:c.10181T>A | XP_016864667.1:p.Leu3394Gln | |
| XM_017009179.2:c.10181T>A | XP_016864668.1:p.Leu3394Gln | |
| XM_017009180.1:c.11276T>A | XP_016864669.1:p.Leu3759Gln | |
| XM_017009181.1:c.11276T>A | XP_016864670.1:p.Leu3759Gln | |
| XM_017009182.1:c.11276T>A | XP_016864671.1:p.Leu3759Gln | |
| XM_017009185.1:c.6365T>A | XP_016864674.1:p.Leu2122Gln | |
| XM_017009186.1:c.5918T>A | XP_016864675.1:p.Leu1973Gln | |
| XM_017009188.1:c.5255T>A | XP_016864677.1:p.Leu1752Gln | |
| XM_024454388.1:c.10181T>A | XP_024310156.1:p.Leu3394Gln | |
| XM_024454389.1:c.9770T>A | XP_024310157.1:p.Leu3257Gln | |
| NM_001369.3:c.11168T>A MANE Select | NP_001360.1:p.Leu3723Gln |