Linked Data
dbSNP Id:
rs773927273
ExAC:
5:134364593 T / C
gnomAD v2:
5-134364593-T-C
gnomAD v4:
5-135028903-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028903T>C , CM000667.2:g.135028903T>C | GRCh38 |
| NC_000005.9:g.134364593T>C , CM000667.1:g.134364593T>C | GRCh37 |
| NC_000005.8:g.134392492T>C | NCBI36 |
| NG_012114.1:g.10372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.821A>G MANE Select | ENSP00000265340.6:p.Tyr274Cys | |
| ENST00000265340.11:c.821A>G | ENSP00000265340.6:p.Tyr274Cys | |
| ENST00000506438.5:c.821A>G | ENSP00000427542.1:p.Tyr274Cys | |
| NM_002653.4:c.821A>G | NP_002644.4:p.Tyr274Cys | |
| NM_002653.5:c.821A>G MANE Select | NP_002644.4:p.Tyr274Cys |