Linked Data
dbSNP Id:
rs368218911
ExAC:
7:6431597 G / C
gnomAD v2:
7-6431597-G-C
gnomAD v3:
7-6391966-G-C
gnomAD v4:
7-6391966-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6391966G>C , CM000669.2:g.6391966G>C | GRCh38 |
| NC_000007.13:g.6431597G>C , CM000669.1:g.6431597G>C | GRCh37 |
| NC_000007.12:g.6398122G>C | NCBI36 |
| NG_029431.1:g.22472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696666.1:n.338G>C | ||
| ENST00000704002.1:c.249G>C | ENSP00000515615.1:p.Pro83= | |
| ENST00000704003.1:c.*103G>C | ENSP00000515616.1:n.*103G>C | |
| ENST00000348035.9:c.150G>C MANE Select | ENSP00000258737.7:p.Pro50= | |
| ENST00000348035.8:c.150G>C | ENSP00000258737.7:p.Pro50= | |
| ENST00000356142.4:c.150G>C | ENSP00000348461.4:p.Pro50= | |
| ENST00000488373.5:n.381G>C | ||
| ENST00000497741.5:n.166G>C | ||
| NM_006908.4:c.150G>C | NP_008839.2:p.Pro50= | |
| NM_018890.3:c.150G>C | NP_061485.1:p.Pro50= | |
| NM_006908.5:c.150G>C MANE Select | NP_008839.2:p.Pro50= | |
| NM_018890.4:c.150G>C | NP_061485.1:p.Pro50= |