Linked Data
dbSNP Id:
rs10515860
gnomAD v2:
5-162917708-G-A
gnomAD v3:
5-163490702-G-A
gnomAD v4:
5-163490702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.163490702G>A , CM000667.2:g.163490702G>A | GRCh38 |
| NC_000005.9:g.162917708G>A , CM000667.1:g.162917708G>A | GRCh37 |
| NC_000005.8:g.162850286G>A | NCBI36 |
| NG_023309.1:g.35192G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393915.9:c.2125+150G>A (HMMR) MANE Select | ENSP00000377492.4:n.2125+150G>A | |
| ENST00000353866.7:c.2077+150G>A (HMMR) | ENSP00000185942.6:n.2077+150G>A | |
| ENST00000358715.3:c.2122+150G>A (HMMR) | ENSP00000351554.3:n.2122+150G>A | |
| ENST00000393915.8:c.2125+150G>A (HMMR) | ENSP00000377492.4:n.2125+150G>A | |
| ENST00000432118.6:c.1864+150G>A (HMMR) | ENSP00000402673.2:n.1864+150G>A | |
| NM_001142556.1:c.2125+150G>A (HMMR) | NP_001136028.1:n.2125+150G>A | |
| NM_001142557.1:c.1864+150G>A (HMMR) | NP_001136029.1:n.1864+150G>A | |
| NM_012484.2:c.2122+150G>A (HMMR) | NP_036616.2:n.2122+150G>A | |
| NM_012485.2:c.2077+150G>A (HMMR) | NP_036617.2:n.2077+150G>A | |
| NR_109892.1:n.468-1319C>T (HMMR-AS1) | ||
| NM_001142556.2:c.2125+150G>A (HMMR) MANE Select | NP_001136028.1:n.2125+150G>A | |
| NM_001142557.2:c.1864+150G>A (HMMR) | NP_001136029.1:n.1864+150G>A | |
| NM_012484.3:c.2122+150G>A (HMMR) | NP_036616.2:n.2122+150G>A | |
| NM_012485.3:c.2077+150G>A (HMMR) | NP_036617.2:n.2077+150G>A |