Linked Data
dbSNP Id:
rs755967265
ExAC:
11:47436847 T / G
gnomAD v2:
11-47436847-T-G
gnomAD v4:
11-47415296-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47415296T>G , CM000673.2:g.47415296T>G | GRCh38 |
| NC_000011.9:g.47436847T>G , CM000673.1:g.47436847T>G | GRCh37 |
| NC_000011.8:g.47393423T>G | NCBI36 |
| NG_017073.1:g.11802T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362021.9:c.1049T>G MANE Select | ENSP00000354689.4:p.Leu350Arg | |
| ENST00000354884.8:c.1028T>G | ENSP00000346956.4:p.Leu343Arg | |
| ENST00000362021.8:c.1049T>G | ENSP00000354689.4:p.Leu350Arg | |
| ENST00000524886.1:n.307T>G | ||
| ENST00000524928.1:c.*1379T>G | ENSP00000437186.1:n.*1379T>G | |
| ENST00000527829.1:n.409T>G | ||
| ENST00000533076.5:c.*46T>G | ENSP00000434290.1:n.*46T>G | |
| NM_001128225.2:c.1049T>G | NP_001121697.1:p.Leu350Arg | |
| NM_152264.4:c.1028T>G | NP_689477.2:p.Leu343Arg | |
| XM_006718381.2:c.1073T>G | XP_006718444.1:p.Leu358Arg | |
| XM_006718383.2:c.965T>G | XP_006718446.1:p.Leu322Arg | |
| XM_006718384.2:c.*46T>G | XP_006718447.1:n.*46T>G | |
| XM_006718385.2:c.*46T>G | XP_006718448.1:n.*46T>G | |
| XM_011520466.1:c.1094T>G | XP_011518768.1:p.Leu365Arg | |
| XM_011520467.1:c.1049T>G | XP_011518769.1:p.Leu350Arg | |
| XM_011520468.1:c.1049T>G | XP_011518770.1:p.Leu350Arg | |
| XM_011520469.1:c.986T>G | XP_011518771.1:p.Leu329Arg | |
| XM_011520470.1:c.941T>G | XP_011518772.1:p.Leu314Arg | |
| XR_242832.1:n.1434T>G | ||
| XR_428862.2:n.1109T>G | ||
| XR_428863.2:n.1105T>G | ||
| XR_930928.1:n.1130T>G | ||
| NM_001330245.1:c.*46T>G | NP_001317174.1:n.*46T>G | |
| NR_134854.1:n.1290T>G | ||
| XM_006718381.3:c.1073T>G | XP_006718444.1:p.Leu358Arg | |
| XM_006718383.3:c.965T>G | XP_006718446.1:p.Leu322Arg | |
| XM_011520468.3:c.1049T>G | XP_011518770.1:p.Leu350Arg | |
| XM_011520470.2:c.941T>G | XP_011518772.1:p.Leu314Arg | |
| XM_017018540.2:c.1028T>G | XP_016874029.1:p.Leu343Arg | |
| XM_017018541.2:c.920T>G | XP_016874030.1:p.Leu307Arg | |
| XM_024448762.1:c.1178T>G | XP_024304530.1:p.Leu393Arg | |
| XR_001748027.1:n.1249T>G | ||
| XR_001748028.1:n.1231T>G | ||
| XR_428862.3:n.1109T>G | ||
| XR_428863.3:n.1105T>G | ||
| XR_930928.2:n.1130T>G | ||
| NM_001128225.3:c.1049T>G MANE Select | NP_001121697.2:p.Leu350Arg | |
| NM_001330245.2:c.*46T>G | NP_001317174.2:n.*46T>G | |
| NM_152264.5:c.1028T>G | NP_689477.3:p.Leu343Arg |