Linked Data
gnomAD v4:
X-101348737-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348737A>G , CM000685.2:g.101348737A>G | GRCh38 |
| NC_000023.10:g.100603725A>G , CM000685.1:g.100603725A>G | GRCh37 |
| NC_000023.9:g.100490381A>G | NCBI36 |
| NG_009616.1:g.42488T>C , LRG_128:g.42488T>C | |
| NG_011734.1:g.5233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.-73T>C MANE Select | ENSP00000361993.3:n.-73T>C | |
| ENST00000644112.2:c.-73T>C | ENSP00000494385.1:n.-73T>C | |
| ENST00000372902.3:c.-73T>C | ENSP00000361993.3:n.-73T>C | |
| ENST00000480575.1:n.13T>C | ||
| NM_004085.3:c.-73T>C | NP_004076.1:n.-73T>C | |
| NM_004085.4:c.-73T>C MANE Select | NP_004076.1:n.-73T>C | |
| NM_001145951.2:c.-73T>C | NP_001139423.1:n.-73T>C |