Linked Data
ClinVar Variation Id:
325060
ClinVar RCV Id:
RCV000367489
dbSNP Id:
rs570755897
gnomAD:
17:72919341 C / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74923246C>G , CM000679.2:g.74923246C>G | GRCh38 |
| NC_000017.10:g.72919341C>G , CM000679.1:g.72919341C>G | GRCh37 |
| NC_000017.9:g.70430936C>G | NCBI36 |
| NG_007882.1:g.5011G>C | |
| NG_033062.1:g.3972C>G | |
| NG_007882.2:g.5018G>C | |
| NG_033062.2:g.3972C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580223.2:c.-231+212C>G | ENSP00000463837.2:p.= | |
| ENST00000614341.5:c.-173G>C (USH1G) MANE Select | ENSP00000480279.1:p.= | |
| ENST00000579243.1:c.-173G>C | ENSP00000462568.1:p.= | |
| ENST00000614341.4:c.-173G>C | ENSP00000480279.1:p.= | |
| NM_001282489.2:c.-429G>C (USH1G) | NP_001269418.1:p.= | |
| NM_173477.4:c.-173G>C (USH1G) | NP_775748.2:p.= | |
| XM_011525479.1:c.-231+212C>G (OTOP2) | XP_011523781.1:p.= | |
| XM_011525479.2:c.-231+212C>G (OTOP2) | XP_011523781.1:p.= | |
| NM_173477.5:c.-173G>C (USH1G) MANE Select | NP_775748.2:p.= | |
| NM_001282489.3:c.-429G>C (USH1G) | NP_001269418.1:p.= |