ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143346947G>T , CM000669.2:g.143346947G>T | GRCh38 |
| NC_000007.13:g.143044040G>T , CM000669.1:g.143044040G>T | GRCh37 |
| NC_000007.12:g.142754162G>T | NCBI36 |
| NG_009815.1:g.35822G>T | |
| NG_009815.2:g.35822G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2401G>T | ENSP00000498052.2:p.Glu801Ter | |
| ENST00000343257.7:c.2401G>T MANE Select | ENSP00000339867.2:p.Glu801Ter | |
| ENST00000432192.6:c.2225G>T | ||
| ENST00000343257.6:c.2401G>T | ENSP00000339867.2:p.Glu801Ter | |
| NM_000083.2:c.2401G>T | NP_000074.2:p.Glu801Ter | |
| NR_046453.1:n.2341G>T | ||
| XM_011515781.1:c.2425G>T | XP_011514083.1:p.Glu809Ter | |
| XM_011515782.1:c.1147G>T | XP_011514084.1:p.Glu383Ter | |
| XM_011515782.2:c.1147G>T | XP_011514084.1:p.Glu383Ter | |
| XM_017011739.1:c.1975G>T | XP_016867228.1:p.Glu659Ter | |
| XM_017011740.1:c.1951G>T | XP_016867229.1:p.Glu651Ter | |
| NM_000083.3:c.2401G>T MANE Select | NP_000074.3:p.Glu801Ter | |
| NR_046453.2:n.2356G>T |