Linked Data
gnomAD v4:
2-149569920-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569920A>G , CM000664.2:g.149569920A>G | GRCh38 |
| NC_000002.11:g.150426434A>G , CM000664.1:g.150426434A>G | GRCh37 |
| NC_000002.10:g.150134680A>G | NCBI36 |
| NG_009189.1:g.22897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.*54T>C MANE Select | ENSP00000301920.5:n.*54T>C | |
| ENST00000303319.9:c.*54T>C | ENSP00000301920.5:n.*54T>C | |
| ENST00000422782.2:c.*54T>C | ENSP00000408331.2:n.*54T>C | |
| ENST00000428879.5:c.*54T>C | ENSP00000389060.1:n.*54T>C | |
| NM_015702.2:c.*54T>C | NP_056517.1:n.*54T>C | |
| NM_015702.3:c.*54T>C MANE Select | NP_056517.1:n.*54T>C |