Linked Data
dbSNP Id:
rs1358075
gnomAD v2:
7-146135938-T-C
gnomAD v3:
7-146438846-T-C
gnomAD v4:
7-146438846-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146438846T>C , CM000669.2:g.146438846T>C | GRCh38 |
| NC_000007.13:g.146135938T>C , CM000669.1:g.146135938T>C | GRCh37 |
| NC_000007.12:g.145766871T>C | NCBI36 |
| NG_007092.2:g.327486T>C | |
| NG_007092.3:g.327846T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.97+321873T>C MANE Select | ENSP00000354778.3:n.97+321873T>C | |
| ENST00000637150.1:n.26+321873T>C | ||
| ENST00000361727.7:c.97+321873T>C | ENSP00000354778.3:n.97+321873T>C | |
| ENST00000625365.2:c.97+321873T>C | ENSP00000485955.1:n.97+321873T>C | |
| NM_014141.5:c.97+321873T>C | NP_054860.1:n.97+321873T>C | |
| XM_017011950.2:c.97+321873T>C | XP_016867439.1:n.97+321873T>C | |
| NM_014141.6:c.97+321873T>C MANE Select | NP_054860.1:n.97+321873T>C |