Linked Data
gnomAD v4:
5-135028919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028919A>G , CM000667.2:g.135028919A>G | GRCh38 |
| NC_000005.9:g.134364609A>G , CM000667.1:g.134364609A>G | GRCh37 |
| NC_000005.8:g.134392508A>G | NCBI36 |
| NG_012114.1:g.10356T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.805T>C MANE Select | ENSP00000265340.6:p.Ser269Pro | |
| ENST00000265340.11:c.805T>C | ENSP00000265340.6:p.Ser269Pro | |
| ENST00000506438.5:c.805T>C | ENSP00000427542.1:p.Ser269Pro | |
| NM_002653.4:c.805T>C | NP_002644.4:p.Ser269Pro | |
| NM_002653.5:c.805T>C MANE Select | NP_002644.4:p.Ser269Pro |