Linked Data
dbSNP Id:
rs757999122
gnomAD v2:
7-33136050-C-T
gnomAD v3:
7-33096438-C-T
gnomAD v4:
7-33096438-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33096438C>T , CM000669.2:g.33096438C>T | GRCh38 |
| NC_000007.13:g.33136050C>T , CM000669.1:g.33136050C>T | GRCh37 |
| NC_000007.12:g.33102575C>T | NCBI36 |
| NG_012968.1:g.17953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474370.2:n.2440+55G>A | ||
| ENST00000492391.2:n.1591+55G>A | ||
| ENST00000682645.1:n.3538+55G>A | ||
| ENST00000683432.1:c.*642+55G>A | ENSP00000508174.1:n.*642+55G>A | |
| ENST00000684207.1:c.*51G>A | ENSP00000506942.1:n.*51G>A | |
| ENST00000297157.8:c.467+55G>A MANE Select | ENSP00000297157.3:n.467+55G>A | |
| ENST00000297157.7:c.467+55G>A | ENSP00000297157.3:n.467+55G>A | |
| ENST00000448915.1:c.365+55G>A | ENSP00000411577.1:n.365+55G>A | |
| NM_203288.1:c.467+55G>A | NP_976033.1:n.467+55G>A | |
| XM_011515468.1:c.365+55G>A | XP_011513770.1:n.365+55G>A | |
| XM_011515468.3:c.365+55G>A | XP_011513770.1:n.365+55G>A | |
| NM_203288.2:c.467+55G>A MANE Select | NP_976033.1:n.467+55G>A |