Linked Data
gnomAD v4:
7-142954179-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954179G>T , CM000669.2:g.142954179G>T | GRCh38 |
| NC_000007.13:g.142651266G>T , CM000669.1:g.142651266G>T | GRCh37 |
| NC_000007.12:g.142361388G>T | NCBI36 |
| NG_007492.1:g.13238C>A | |
| NG_007492.2:g.13238C>A | |
| NG_007492.3:g.13238C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.924+5C>A MANE Select | ENSP00000347409.2:n.924+5C>A | |
| ENST00000355265.6:c.924+5C>A | ENSP00000347409.2:n.924+5C>A | |
| ENST00000479768.6:n.1042+5C>A | ||
| NM_000420.2:c.924+5C>A | NP_000411.1:n.924+5C>A | |
| XM_005249993.2:c.960+5C>A | XP_005250050.1:n.960+5C>A | |
| XM_005249994.3:c.-24+5C>A | XP_005250051.1:n.-24+5C>A | |
| NM_000420.3:c.924+5C>A MANE Select | NP_000411.1:n.924+5C>A |