Linked Data
ClinVar Variation Id:
1957787
ClinVar RCV Id:
RCV002725296
dbSNP Id:
rs370324630
ExAC:
7:33136097 G / T
gnomAD v2:
7-33136097-G-T
gnomAD v4:
7-33096485-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33096485G>T , CM000669.2:g.33096485G>T | GRCh38 |
| NC_000007.13:g.33136097G>T , CM000669.1:g.33136097G>T | GRCh37 |
| NC_000007.12:g.33102622G>T | NCBI36 |
| NG_012968.1:g.17906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474370.2:n.2440+8C>A | ||
| ENST00000492391.2:n.1591+8C>A | ||
| ENST00000682645.1:n.3538+8C>A | ||
| ENST00000683432.1:c.*642+8C>A | ENSP00000508174.1:n.*642+8C>A | |
| ENST00000684207.1:c.*4C>A | ENSP00000506942.1:n.*4C>A | |
| ENST00000297157.8:c.467+8C>A MANE Select | ENSP00000297157.3:n.467+8C>A | |
| ENST00000297157.7:c.467+8C>A | ENSP00000297157.3:n.467+8C>A | |
| ENST00000448915.1:c.365+8C>A | ENSP00000411577.1:n.365+8C>A | |
| NM_203288.1:c.467+8C>A | NP_976033.1:n.467+8C>A | |
| XM_011515468.1:c.365+8C>A | XP_011513770.1:n.365+8C>A | |
| XM_011515468.3:c.365+8C>A | XP_011513770.1:n.365+8C>A | |
| NM_203288.2:c.467+8C>A MANE Select | NP_976033.1:n.467+8C>A |