Linked Data
dbSNP Id:
rs772763840
ExAC:
10:69961664 T / G
gnomAD v2:
10-69961664-T-G
gnomAD v4:
10-68201907-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68201907T>G , CM000672.2:g.68201907T>G | GRCh38 |
| NC_000010.10:g.69961664T>G , CM000672.1:g.69961664T>G | GRCh37 |
| NC_000010.9:g.69631670T>G | NCBI36 |
| NG_032118.1:g.100791T>G , LRG_410:g.100791T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2747T>G | ENSP00000346369.2:p.Leu916Arg | |
| ENST00000540630.6:c.3626T>G | ENSP00000441668.3:p.Leu1209Arg | |
| ENST00000613327.5:c.3572T>G | ENSP00000480757.2:p.Leu1191Arg | |
| ENST00000688812.1:c.*835T>G | ENSP00000510658.1:n.*835T>G | |
| ENST00000690544.1:c.*2843T>G | ENSP00000508989.1:n.*2843T>G | |
| ENST00000358913.10:c.3572T>G MANE Select | ENSP00000351790.5:p.Leu1191Arg | |
| ENST00000354393.6:c.2747T>G | ENSP00000346369.2:p.Leu916Arg | |
| ENST00000358913.9:c.3572T>G | ENSP00000351790.5:p.Leu1191Arg | |
| ENST00000540630.5:c.3572T>G | ENSP00000441668.2:p.Leu1191Arg | |
| ENST00000613327.4:c.2690T>G | ENSP00000480757.1:p.Leu897Arg | |
| NM_001256267.1:c.3572T>G | NP_001243196.1:p.Leu1191Arg | |
| NM_001256268.1:c.2690T>G | NP_001243197.1:p.Leu897Arg | |
| NM_032578.3:c.3572T>G , LRG_410t1:c.3572T>G | NP_115967.2:p.Leu1191Arg | |
| NR_045662.3:n.2999T>G | ||
| NR_045663.3:n.3701T>G | ||
| XM_006718043.2:c.3626T>G | XP_006718106.1:p.Leu1209Arg | |
| XM_011540292.1:c.3602T>G | XP_011538594.1:p.Leu1201Arg | |
| XR_946029.1:n.1803+2124A>C | ||
| XM_017016833.1:c.3650T>G | XP_016872322.1:p.Leu1217Arg | |
| XM_017016834.2:c.3572T>G | XP_016872323.1:p.Leu1191Arg | |
| XM_024448236.1:c.2450T>G | XP_024304004.1:p.Leu817Arg | |
| NR_045662.4:n.3109T>G | ||
| NR_045663.4:n.3646T>G | ||
| NM_001256267.2:c.3572T>G | NP_001243196.1:p.Leu1191Arg | |
| NM_001256268.2:c.2690T>G | NP_001243197.1:p.Leu897Arg | |
| NM_032578.4:c.3572T>G MANE Select | NP_115967.2:p.Leu1191Arg |