Linked Data
dbSNP Id:
rs955000281
gnomAD v2:
13-113773304-G-T
gnomAD v3:
13-113118990-G-T
gnomAD v4:
13-113118990-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118990G>T , CM000675.2:g.113118990G>T | GRCh38 |
| NC_000013.10:g.113773304G>T , CM000675.1:g.113773304G>T | GRCh37 |
| NC_000013.9:g.112821305G>T | NCBI36 |
| NG_009258.1:g.1192G>T , LRG_548:g.1192G>T | |
| NG_009262.1:g.18200G>T , LRG_554:g.18200G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1317G>T MANE Select | ENSP00000329546.4:p.Leu439= | |
| ENST00000346342.7:c.1317G>T | ENSP00000329546.3:p.Leu439= | |
| ENST00000375581.3:c.1383G>T | ENSP00000364731.3:p.Leu461= | |
| ENST00000541084.5:c.1131G>T | ENSP00000442051.2:p.Leu377= | |
| NM_000131.4:c.1383G>T , LRG_554t1:c.1383G>T | NP_000122.1:p.Leu461= | |
| NM_001267554.1:c.1131G>T | NP_001254483.1:p.Leu377= | |
| NM_019616.3:c.1317G>T , LRG_554t2:c.1317G>T | NP_062562.1:p.Leu439= | |
| NR_051961.1:n.1404G>T | ||
| XM_006719963.2:c.1176G>T | XP_006720026.1:p.Leu392= | |
| XM_011537474.1:c.1425G>T | XP_011535776.1:p.Leu475= | |
| XM_011537475.1:c.1239G>T | XP_011535777.1:p.Leu413= | |
| XM_011537476.1:c.1077G>T | XP_011535778.1:p.Leu359= | |
| XM_011537477.1:c.1386G>T | XP_011535779.1:p.Leu462= | |
| XM_006719963.3:c.1221G>T | XP_006720026.2:p.Leu407= | |
| XM_011537474.2:c.1470G>T | XP_011535776.2:p.Leu490= | |
| XM_011537475.2:c.1284G>T | XP_011535777.2:p.Leu428= | |
| XM_011537476.2:c.1077G>T | XP_011535778.1:p.Leu359= | |
| NM_019616.4:c.1317G>T MANE Select | NP_062562.1:p.Leu439= | |
| NR_051961.2:n.1401G>T | ||
| NM_001267554.2:c.1131G>T | NP_001254483.1:p.Leu377= |