Linked Data
dbSNP Id:
rs149160715
gnomAD v2:
7-1273938-C-T
gnomAD v3:
7-1234302-C-T
gnomAD v4:
7-1234302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234302C>T , CM000669.2:g.1234302C>T | GRCh38 |
| NC_000007.13:g.1273938C>T , CM000669.1:g.1273938C>T | GRCh37 |
| NC_000007.12:g.1240464C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316333.9:c.450+607C>T MANE Select | ENSP00000314480.8:n.450+607C>T | |
| ENST00000316333.8:c.450+607C>T | ENSP00000314480.8:n.450+607C>T | |
| NM_001080461.1:c.450+607C>T | NP_001073930.1:n.450+607C>T | |
| NM_001080461.2:c.450+607C>T | NP_001073930.1:n.450+607C>T | |
| NM_001080461.3:c.450+607C>T MANE Select | NP_001073930.1:n.450+607C>T |