Linked Data
dbSNP Id:
rs775755663
ExAC:
5:134364727 C / T
gnomAD v2:
5-134364727-C-T
gnomAD v4:
5-135029037-C-T
COSMIC:
COSM6169166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135029037C>T , CM000667.2:g.135029037C>T | GRCh38 |
| NC_000005.9:g.134364727C>T , CM000667.1:g.134364727C>T | GRCh37 |
| NC_000005.8:g.134392626C>T | NCBI36 |
| NG_012114.1:g.10238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.687G>A MANE Select | ENSP00000265340.6:p.Met229Ile | |
| ENST00000265340.11:c.687G>A | ENSP00000265340.6:p.Met229Ile | |
| ENST00000506438.5:c.687G>A | ENSP00000427542.1:p.Met229Ile | |
| NM_002653.4:c.687G>A | NP_002644.4:p.Met229Ile | |
| NM_002653.5:c.687G>A MANE Select | NP_002644.4:p.Met229Ile |