Linked Data
ClinVar Variation Id:
246330
ClinVar RCV Id:
RCV000237041
dbSNP Id:
rs370301290
ExAC:
12:110029153 C / T
gnomAD v2:
12-110029153-C-T
gnomAD v3:
12-109591348-C-T
gnomAD v4:
12-109591348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591348C>T , CM000674.2:g.109591348C>T | GRCh38 |
| NC_000012.11:g.110029153C>T , CM000674.1:g.110029153C>T | GRCh37 |
| NC_000012.10:g.108513536C>T | NCBI36 |
| NG_007702.1:g.22654C>T , LRG_156:g.22654C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.33C>T | ENSP00000439134.1:p.Leu11= | |
| ENST00000546277.6:c.876C>T | ENSP00000438153.2:p.Leu292= | |
| ENST00000636529.2:n.515C>T | ||
| ENST00000697195.1:c.*640C>T | ENSP00000513181.1:n.*640C>T | |
| ENST00000697196.1:c.*49C>T | ENSP00000513182.1:n.*49C>T | |
| ENST00000697197.1:n.2905C>T | ||
| ENST00000228510.8:c.876C>T MANE Select | ENSP00000228510.3:p.Leu292= | |
| ENST00000636529.1:c.501C>T | ||
| ENST00000636996.1:c.724C>T | ||
| ENST00000228510.7:c.876C>T | ENSP00000228510.3:p.Leu292= | |
| ENST00000392727.7:c.720C>T | ENSP00000376487.3:p.Leu240= | |
| ENST00000447878.6:c.*323C>T | ENSP00000415555.2:n.*323C>T | |
| ENST00000537237.5:c.*549C>T | ENSP00000445382.1:n.*549C>T | |
| ENST00000539575.4:c.876C>T | ENSP00000443551.2:p.Leu292= | |
| ENST00000539696.5:c.33C>T | ENSP00000439134.1:p.Leu11= | |
| ENST00000540353.1:n.3109C>T | ||
| ENST00000625889.2:c.720C>T | ENSP00000486846.1:p.Leu240= | |
| ENST00000629016.2:c.*323C>T | ENSP00000486804.1:n.*323C>T | |
| NM_000431.3:c.876C>T | NP_000422.1:p.Leu292= | |
| NM_001114185.2:c.876C>T | NP_001107657.1:p.Leu292= | |
| NM_001301182.1:c.720C>T | NP_001288111.1:p.Leu240= | |
| XM_011538372.1:c.876C>T | XP_011536674.1:p.Leu292= | |
| XM_017019313.2:c.720C>T | XP_016874802.1:p.Leu240= | |
| XM_017019314.1:c.876C>T | XP_016874803.1:p.Leu292= | |
| XM_024448982.1:c.876C>T | XP_024304750.1:p.Leu292= | |
| NM_000431.4:c.876C>T MANE Select | NP_000422.1:p.Leu292= | |
| NM_001114185.3:c.876C>T | NP_001107657.1:p.Leu292= | |
| NM_001301182.2:c.720C>T | NP_001288111.1:p.Leu240= |