Linked Data
dbSNP Id:
rs764680295
ExAC:
13:113773300 T / G
gnomAD v2:
13-113773300-T-G
gnomAD v4:
13-113118986-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118986T>G , CM000675.2:g.113118986T>G | GRCh38 |
| NC_000013.10:g.113773300T>G , CM000675.1:g.113773300T>G | GRCh37 |
| NC_000013.9:g.112821301T>G | NCBI36 |
| NG_009258.1:g.1188T>G , LRG_548:g.1188T>G | |
| NG_009262.1:g.18196T>G , LRG_554:g.18196T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1313T>G MANE Select | ENSP00000329546.4:p.Leu438Arg | |
| ENST00000346342.7:c.1313T>G | ENSP00000329546.3:p.Leu438Arg | |
| ENST00000375581.3:c.1379T>G | ENSP00000364731.3:p.Leu460Arg | |
| ENST00000541084.5:c.1127T>G | ENSP00000442051.2:p.Leu376Arg | |
| NM_000131.4:c.1379T>G , LRG_554t1:c.1379T>G | NP_000122.1:p.Leu460Arg | |
| NM_001267554.1:c.1127T>G | NP_001254483.1:p.Leu376Arg | |
| NM_019616.3:c.1313T>G , LRG_554t2:c.1313T>G | NP_062562.1:p.Leu438Arg | |
| NR_051961.1:n.1400T>G | ||
| XM_006719963.2:c.1172T>G | XP_006720026.1:p.Leu391Arg | |
| XM_011537474.1:c.1421T>G | XP_011535776.1:p.Leu474Arg | |
| XM_011537475.1:c.1235T>G | XP_011535777.1:p.Leu412Arg | |
| XM_011537476.1:c.1073T>G | XP_011535778.1:p.Leu358Arg | |
| XM_011537477.1:c.1382T>G | XP_011535779.1:p.Leu461Arg | |
| XM_006719963.3:c.1217T>G | XP_006720026.2:p.Leu406Arg | |
| XM_011537474.2:c.1466T>G | XP_011535776.2:p.Leu489Arg | |
| XM_011537475.2:c.1280T>G | XP_011535777.2:p.Leu427Arg | |
| XM_011537476.2:c.1073T>G | XP_011535778.1:p.Leu358Arg | |
| NM_019616.4:c.1313T>G MANE Select | NP_062562.1:p.Leu438Arg | |
| NR_051961.2:n.1397T>G | ||
| NM_001267554.2:c.1127T>G | NP_001254483.1:p.Leu376Arg |