Linked Data
ClinVar Variation Id:
383025
dbSNP Id:
rs140860616
ExAC:
6:5216833 A / G
gnomAD v2:
6-5216833-A-G
gnomAD v3:
6-5216600-A-G
gnomAD v4:
6-5216600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5216600A>G , CM000668.2:g.5216600A>G | GRCh38 |
| NC_000006.11:g.5216833A>G , CM000668.1:g.5216833A>G | GRCh37 |
| NC_000006.10:g.5161832A>G | NCBI36 |
| NG_051651.1:g.49351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330636.9:c.207+18T>C (LYRM4) MANE Select | ENSP00000418787.1:n.207+18T>C | |
| ENST00000330636.8:c.207+18T>C (LYRM4) | ENSP00000418787.1:n.207+18T>C | |
| ENST00000463032.5:c.121+18T>C (LYRM4) | ||
| ENST00000464010.5:c.207+18T>C (LYRM4) | ENSP00000420026.1:n.207+18T>C | |
| ENST00000468929.5:c.86+44048T>C (LYRM4) | ENSP00000418321.1:n.86+44048T>C | |
| ENST00000480566.5:c.207+18T>C (LYRM4) | ENSP00000419928.1:n.207+18T>C | |
| ENST00000500576.4:c.207+18T>C (LYRM4) | ENSP00000443900.3:n.207+18T>C | |
| NM_001164840.2:c.207+18T>C (LYRM4) | NP_001158312.1:n.207+18T>C | |
| NM_001164841.2:c.207+18T>C (LYRM4) | NP_001158313.1:n.207+18T>C | |
| NM_020408.5:c.207+18T>C (LYRM4) | NP_065141.3:n.207+18T>C | |
| NR_104417.1:n.424+18T>C (LYRM4) | ||
| NR_104418.1:n.303+44048T>C (LYRM4) | ||
| NR_126015.1:n.374-21108A>G (LYRM4-AS1) | ||
| XM_005249237.3:c.207+18T>C (LYRM4) | XP_005249294.1:n.207+18T>C | |
| XM_005249239.2:c.207+18T>C (LYRM4) | XP_005249296.1:n.207+18T>C | |
| XM_006715151.1:c.207+18T>C (LYRM4) | XP_006715214.1:n.207+18T>C | |
| XM_011514758.1:c.207+18T>C (LYRM4) | XP_011513060.1:n.207+18T>C | |
| NM_001318782.1:c.207+18T>C (LYRM4) | NP_001305711.1:n.207+18T>C | |
| NM_001318783.1:c.207+18T>C (LYRM4) | NP_001305712.1:n.207+18T>C | |
| NR_134856.1:n.424+18T>C (LYRM4) | ||
| XM_017011083.2:c.207+18T>C (LYRM4) | XP_016866572.1:n.207+18T>C | |
| XM_017011084.2:c.207+18T>C (LYRM4) | XP_016866573.1:n.207+18T>C | |
| NM_001164840.3:c.207+18T>C (LYRM4) | NP_001158312.1:n.207+18T>C | |
| NM_001164841.3:c.207+18T>C (LYRM4) | NP_001158313.1:n.207+18T>C | |
| NM_020408.6:c.207+18T>C (LYRM4) MANE Select | NP_065141.3:n.207+18T>C | |
| NR_104417.2:n.424+18T>C (LYRM4) |