Linked Data
gnomAD v4:
4-177442381-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442381A>C , CM000666.2:g.177442381A>C | GRCh38 |
| NC_000004.11:g.178363535A>C , CM000666.1:g.178363535A>C | GRCh37 |
| NC_000004.10:g.178600529A>C | NCBI36 |
| NG_011845.2:g.5123T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-6T>G MANE Select | ENSP00000264595.2:n.-6T>G | |
| ENST00000264595.6:c.-6T>G | ENSP00000264595.2:n.-6T>G | |
| ENST00000506853.5:n.29T>G | ||
| ENST00000510955.5:n.29T>G | ||
| ENST00000511231.1:n.29T>G | ||
| NM_000027.3:c.-6T>G | NP_000018.2:n.-6T>G | |
| NM_001171988.1:c.-6T>G | NP_001165459.1:n.-6T>G | |
| NR_033655.1:n.123T>G | ||
| XM_006714123.2:c.-6T>G | XP_006714186.1:n.-6T>G | |
| XR_001741155.2:n.89T>G | ||
| NM_000027.4:c.-6T>G MANE Select | NP_000018.2:n.-6T>G | |
| NM_001171988.2:c.-6T>G | NP_001165459.1:n.-6T>G | |
| NR_033655.2:n.57T>G |