Linked Data
ClinVar Variation Id:
191051
ClinVar RCV Id:
RCV000171227
dbSNP Id:
rs786205489
gnomAD v4:
14-91291030-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91291030C>G , CM000676.2:g.91291030C>G | GRCh38 |
| NC_000014.8:g.91757374C>G , CM000676.1:g.91757374C>G | GRCh37 |
| NC_000014.7:g.90827127C>G | NCBI36 |
| NG_033118.1:g.131815G>C | |
| NG_033118.2:g.131815G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389857.11:c.4167G>C MANE Select | ENSP00000374507.6:p.Met1389Ile | |
| ENST00000389857.10:c.4167G>C | ENSP00000374507.6:p.Met1389Ile | |
| ENST00000555995.1:n.42G>C | ||
| NM_001080414.3:c.4167G>C | NP_001073883.2:p.Met1389Ile | |
| XM_005267691.3:c.4167G>C | XP_005267748.1:p.Met1389Ile | |
| XM_011536796.1:c.4059G>C | XP_011535098.1:p.Met1353Ile | |
| XR_429316.2:n.4295G>C | ||
| XR_943459.1:n.4295G>C | ||
| XM_005267691.5:c.4167G>C | XP_005267748.1:p.Met1389Ile | |
| XM_011536796.2:c.4059G>C | XP_011535098.1:p.Met1353Ile | |
| XM_017021335.2:c.4167G>C | XP_016876824.1:p.Met1389Ile | |
| XM_017021336.1:c.1248G>C | XP_016876825.1:p.Met416Ile | |
| XR_429316.4:n.4293G>C | ||
| NM_001080414.4:c.4167G>C MANE Select | NP_001073883.2:p.Met1389Ile |