Linked Data
dbSNP Id:
rs1241712831
gnomAD v2:
4-68619771-T-C
gnomAD v3:
4-67754053-T-C
gnomAD v4:
4-67754053-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754053T>C , CM000666.2:g.67754053T>C | GRCh38 |
| NC_000004.11:g.68619771T>C , CM000666.1:g.68619771T>C | GRCh37 |
| NC_000004.10:g.68302366T>C | NCBI36 |
| NG_009293.1:g.7034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.283A>G MANE Select | ENSP00000226413.5:p.Met95Val | |
| ENST00000226413.4:c.283A>G | ENSP00000226413.4:p.Met95Val | |
| ENST00000420975.2:c.283A>G | ENSP00000397561.2:p.Met95Val | |
| NM_000406.2:c.283A>G | NP_000397.1:p.Met95Val | |
| NM_001012763.1:c.283A>G | NP_001012781.1:p.Met95Val | |
| NM_000406.3:c.283A>G MANE Select | NP_000397.1:p.Met95Val | |
| NM_001012763.2:c.283A>G | NP_001012781.1:p.Met95Val |