Linked Data
dbSNP Id:
rs756216482
ExAC:
7:142654897 G / C
gnomAD v2:
7-142654897-G-C
gnomAD v3:
7-142957810-G-C
gnomAD v4:
7-142957810-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957810G>C , CM000669.2:g.142957810G>C | GRCh38 |
| NC_000007.13:g.142654897G>C , CM000669.1:g.142654897G>C | GRCh37 |
| NC_000007.12:g.142365019G>C | NCBI36 |
| NG_007492.1:g.9607C>G | |
| NG_007492.2:g.9607C>G | |
| NG_007492.3:g.9607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.672+17C>G MANE Select | ENSP00000347409.2:n.672+17C>G | |
| ENST00000355265.6:c.672+17C>G | ENSP00000347409.2:n.672+17C>G | |
| ENST00000476829.5:c.525+494C>G | ENSP00000419889.1:n.525+494C>G | |
| ENST00000479768.6:n.790+17C>G | ||
| ENST00000494148.1:n.271+17C>G | ||
| NM_000420.2:c.672+17C>G | NP_000411.1:n.672+17C>G | |
| XM_005249993.2:c.708+17C>G | XP_005250050.1:n.708+17C>G | |
| NM_000420.3:c.672+17C>G MANE Select | NP_000411.1:n.672+17C>G |