Linked Data
ClinVar Variation Id:
544153
ClinVar RCV Id:
RCV000655213
dbSNP Id:
rs1553513429
gnomAD v4:
2-210608544-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608544G>C , CM000664.2:g.210608544G>C | GRCh38 |
| NC_000002.11:g.211473268G>C , CM000664.1:g.211473268G>C | GRCh37 |
| NC_000002.10:g.211181513G>C | NCBI36 |
| NG_008285.1:g.135860G>C , LRG_336:g.135860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2376G>C MANE Select | ENSP00000233072.5:p.Met792Ile | |
| ENST00000430249.7:c.2394G>C | ENSP00000402608.2:p.Met798Ile | |
| ENST00000451903.3:c.1023G>C | ENSP00000406136.2:p.Met341Ile | |
| ENST00000673510.1:c.2376G>C | ENSP00000500537.1:p.Met792Ile | |
| ENST00000673630.1:c.2376G>C | ENSP00000501073.1:p.Met792Ile | |
| ENST00000673698.1:c.856G>C | ||
| ENST00000673711.1:c.2376G>C | ENSP00000501022.1:p.Met792Ile | |
| ENST00000674074.1:n.1521G>C | ||
| ENST00000233072.9:c.2376G>C | ENSP00000233072.5:p.Met792Ile | |
| ENST00000430249.6:c.2394G>C | ENSP00000402608.2:p.Met798Ile | |
| ENST00000451903.2:c.1023G>C | ENSP00000406136.2:p.Met341Ile | |
| NM_001122633.2:c.2394G>C | NP_001116105.1:p.Met798Ile | |
| NM_001122634.3:c.1023G>C | NP_001116106.1:p.Met341Ile | |
| NM_001875.4:c.2376G>C , LRG_336t1:c.2376G>C | NP_001866.2:p.Met792Ile | |
| XM_011510640.1:c.2409G>C | XP_011508942.1:p.Met803Ile | |
| XM_011510641.1:c.2376G>C | XP_011508943.1:p.Met792Ile | |
| XM_011510642.1:c.2376G>C | XP_011508944.1:p.Met792Ile | |
| XM_011510643.1:c.2376G>C | XP_011508945.1:p.Met792Ile | |
| XM_011510644.1:c.2376G>C | XP_011508946.1:p.Met792Ile | |
| NM_001122633.3:c.2376G>C | NP_001116105.2:p.Met792Ile | |
| NM_001369256.1:c.2409G>C | NP_001356185.1:p.Met803Ile | |
| NM_001369257.1:c.2376G>C | NP_001356186.1:p.Met792Ile | |
| NM_001875.5:c.2376G>C MANE Select | NP_001866.2:p.Met792Ile | |
| NR_161225.1:n.3285G>C | ||
| NR_163592.1:n.1532G>C |