Linked Data
ClinVar Variation Id:
792019
ClinVar RCV Id:
RCV000975088
dbSNP Id:
rs112257004
ExAC:
5:162910136 A / G
gnomAD v2:
5-162910136-A-G
gnomAD v3:
5-163483130-A-G
gnomAD v4:
5-163483130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.163483130A>G , CM000667.2:g.163483130A>G | GRCh38 |
| NC_000005.9:g.162910136A>G , CM000667.1:g.162910136A>G | GRCh37 |
| NC_000005.8:g.162842714A>G | NCBI36 |
| NG_023309.1:g.27620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393915.9:c.1643A>G (HMMR) MANE Select | ENSP00000377492.4:p.Gln548Arg | |
| ENST00000353866.7:c.1595A>G (HMMR) | ENSP00000185942.6:p.Gln532Arg | |
| ENST00000358715.3:c.1640A>G (HMMR) | ENSP00000351554.3:p.Gln547Arg | |
| ENST00000393915.8:c.1643A>G (HMMR) | ENSP00000377492.4:p.Gln548Arg | |
| ENST00000432118.6:c.1382A>G (HMMR) | ENSP00000402673.2:p.Gln461Arg | |
| NM_001142556.1:c.1643A>G (HMMR) | NP_001136028.1:p.Gln548Arg | |
| NM_001142557.1:c.1382A>G (HMMR) | NP_001136029.1:p.Gln461Arg | |
| NM_012484.2:c.1640A>G (HMMR) | NP_036616.2:p.Gln547Arg | |
| NM_012485.2:c.1595A>G (HMMR) | NP_036617.2:p.Gln532Arg | |
| NR_109892.1:n.743T>C (HMMR-AS1) | ||
| NM_001142556.2:c.1643A>G (HMMR) MANE Select | NP_001136028.1:p.Gln548Arg | |
| NM_001142557.2:c.1382A>G (HMMR) | NP_001136029.1:p.Gln461Arg | |
| NM_012484.3:c.1640A>G (HMMR) | NP_036616.2:p.Gln547Arg | |
| NM_012485.3:c.1595A>G (HMMR) | NP_036617.2:p.Gln532Arg |