Linked Data
dbSNP Id:
rs755550432
ExAC:
10:69959134 T / G
gnomAD v2:
10-69959134-T-G
gnomAD v4:
10-68199377-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199377T>G , CM000672.2:g.68199377T>G | GRCh38 |
| NC_000010.10:g.69959134T>G , CM000672.1:g.69959134T>G | GRCh37 |
| NC_000010.9:g.69629140T>G | NCBI36 |
| NG_032118.1:g.98261T>G , LRG_410:g.98261T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2470T>G | ENSP00000346369.2:p.Leu824Val | |
| ENST00000540630.6:c.3349T>G | ENSP00000441668.3:p.Leu1117Val | |
| ENST00000613327.5:c.3295T>G | ENSP00000480757.2:p.Leu1099Val | |
| ENST00000688812.1:c.*558T>G | ENSP00000510658.1:n.*558T>G | |
| ENST00000690544.1:c.*2566T>G | ENSP00000508989.1:n.*2566T>G | |
| ENST00000358913.10:c.3295T>G MANE Select | ENSP00000351790.5:p.Leu1099Val | |
| ENST00000354393.6:c.2470T>G | ENSP00000346369.2:p.Leu824Val | |
| ENST00000358913.9:c.3295T>G | ENSP00000351790.5:p.Leu1099Val | |
| ENST00000540630.5:c.3295T>G | ENSP00000441668.2:p.Leu1099Val | |
| ENST00000613327.4:c.2413T>G | ENSP00000480757.1:p.Leu805Val | |
| NM_001256267.1:c.3295T>G | NP_001243196.1:p.Leu1099Val | |
| NM_001256268.1:c.2413T>G | NP_001243197.1:p.Leu805Val | |
| NM_032578.3:c.3295T>G , LRG_410t1:c.3295T>G | NP_115967.2:p.Leu1099Val | |
| NR_045662.3:n.2722T>G | ||
| NR_045663.3:n.3424T>G | ||
| XM_006718043.2:c.3349T>G | XP_006718106.1:p.Leu1117Val | |
| XM_011540292.1:c.3325T>G | XP_011538594.1:p.Leu1109Val | |
| XR_946029.1:n.1804-102A>C | ||
| XM_017016833.1:c.3373T>G | XP_016872322.1:p.Leu1125Val | |
| XM_017016834.2:c.3295T>G | XP_016872323.1:p.Leu1099Val | |
| XM_024448236.1:c.2173T>G | XP_024304004.1:p.Leu725Val | |
| NR_045662.4:n.2832T>G | ||
| NR_045663.4:n.3369T>G | ||
| NM_001256267.2:c.3295T>G | NP_001243196.1:p.Leu1099Val | |
| NM_001256268.2:c.2413T>G | NP_001243197.1:p.Leu805Val | |
| NM_032578.4:c.3295T>G MANE Select | NP_115967.2:p.Leu1099Val |