Linked Data
gnomAD v4:
10-119651431-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651431T>C , CM000672.2:g.119651431T>C | GRCh38 |
| NC_000010.10:g.121410943T>C , CM000672.1:g.121410943T>C | GRCh37 |
| NC_000010.9:g.121400933T>C | NCBI36 |
| NG_016125.1:g.5062T>C , LRG_742:g.5062T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.-245T>C MANE Select | ENSP00000358081.4:n.-245T>C | |
| ENST00000369085.7:c.-245T>C | ENSP00000358081.3:n.-245T>C | |
| NM_004281.3:c.-245T>C , LRG_742t1:c.-245T>C | NP_004272.2:n.-245T>C | |
| XM_005270287.1:c.-245T>C | XP_005270344.1:n.-245T>C | |
| XM_005270287.2:c.-245T>C | XP_005270344.1:n.-245T>C | |
| NM_004281.4:c.-245T>C MANE Select | NP_004272.2:n.-245T>C |