Linked Data
dbSNP Id:
rs779160492
ExAC:
5:134366920 G / A
gnomAD v2:
5-134366920-G-A
gnomAD v3:
5-135031230-G-A
gnomAD v4:
5-135031230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031230G>A , CM000667.2:g.135031230G>A | GRCh38 |
| NC_000005.9:g.134366920G>A , CM000667.1:g.134366920G>A | GRCh37 |
| NC_000005.8:g.134394819G>A | NCBI36 |
| NG_012114.1:g.8045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.402+46C>T MANE Select | ENSP00000265340.6:n.402+46C>T | |
| ENST00000265340.11:c.402+46C>T | ENSP00000265340.6:n.402+46C>T | |
| ENST00000503586.1:c.524+46C>T | ||
| ENST00000504936.1:n.735+46C>T | ||
| ENST00000506438.5:c.402+46C>T | ENSP00000427542.1:n.402+46C>T | |
| NM_002653.4:c.402+46C>T | NP_002644.4:n.402+46C>T | |
| NM_002653.5:c.402+46C>T MANE Select | NP_002644.4:n.402+46C>T |