Linked Data
dbSNP Id:
rs1233560
gnomAD v2:
7-155593438-G-A
gnomAD v3:
7-155800744-G-A
gnomAD v4:
7-155800744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155800744G>A , CM000669.2:g.155800744G>A | GRCh38 |
| NC_000007.13:g.155593438G>A , CM000669.1:g.155593438G>A | GRCh37 |
| NC_000007.12:g.155286199G>A | NCBI36 |
| NG_007504.2:g.16530C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.*2156C>T MANE Select | ENSP00000297261.2:n.*2156C>T | |
| ENST00000297261.6:c.*2156C>T | ENSP00000297261.2:n.*2156C>T | |
| ENST00000430104.5:c.302-499C>T | ENSP00000396621.1:n.302-499C>T | |
| ENST00000435425.1:c.302-147C>T | ENSP00000413871.1:n.302-147C>T | |
| ENST00000441114.5:c.302-77C>T | ENSP00000410546.1:n.302-77C>T | |
| NM_001310462.1:c.302-499C>T | NP_001297391.1:n.302-499C>T | |
| NR_132318.1:n.472-77C>T | ||
| NR_132319.1:n.472-147C>T | ||
| XR_928240.1:n.1127C>T | ||
| NM_000193.4:c.*2156C>T MANE Select | NP_000184.1:n.*2156C>T | |
| NM_001310462.2:c.302-499C>T | NP_001297391.1:n.302-499C>T | |
| NR_132318.2:n.563-77C>T | ||
| NR_132319.2:n.563-147C>T |