Linked Data
gnomAD v4:
16-88427416-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88427416T>C , CM000678.2:g.88427416T>C | GRCh38 |
| NC_000016.9:g.88493824T>C , CM000678.1:g.88493824T>C | GRCh37 |
| NC_000016.8:g.87021325T>C | NCBI36 |
| NG_012236.2:g.4946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.-55T>C MANE Select | ENSP00000456500.2:n.-55T>C | |
| XM_011523386.1:c.-55T>C | XP_011521688.1:n.-55T>C | |
| XM_011523387.1:c.-55T>C | XP_011521689.1:n.-55T>C | |
| XM_011523388.1:c.-55T>C | XP_011521690.1:n.-55T>C | |
| XM_017023784.1:c.-55T>C | XP_016879273.1:n.-55T>C | |
| XM_017023785.1:c.-55T>C | XP_016879274.1:n.-55T>C | |
| XR_002957934.1:n.250+2548A>G | ||
| NM_001367624.2:c.-55T>C MANE Select | NP_001354553.1:n.-55T>C |