Linked Data
gnomAD v4:
1-115033320-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033320T>C , CM000663.2:g.115033320T>C | GRCh38 |
| NC_000001.10:g.115575941T>C , CM000663.1:g.115575941T>C | GRCh37 |
| NC_000001.9:g.115377464T>C | NCBI36 |
| NG_015891.1:g.8527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-42T>C MANE Select | ENSP00000256592.1:n.-1-42T>C | |
| ENST00000256592.2:c.-1-42T>C | ENSP00000256592.1:n.-1-42T>C | |
| NM_000549.4:c.-1-42T>C | NP_000540.2:n.-1-42T>C | |
| XM_011542065.1:c.-43T>C | XP_011540367.1:n.-43T>C | |
| XM_011542065.2:c.-43T>C | XP_011540367.1:n.-43T>C | |
| NM_000549.5:c.-1-42T>C MANE Select | NP_000540.2:n.-1-42T>C |