Linked Data
ClinVar Variation Id:
1274192
ClinVar RCV Id:
RCV001685180
dbSNP Id:
rs2075652
gnomAD v2:
11-113294898-G-A
gnomAD v3:
11-113424176-G-A
gnomAD v4:
11-113424176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113424176G>A , CM000673.2:g.113424176G>A | GRCh38 |
| NC_000011.9:g.113294898G>A , CM000673.1:g.113294898G>A | GRCh37 |
| NC_000011.8:g.112800108G>A | NCBI36 |
| NG_008841.1:g.56104C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.285+191C>T MANE Select | ENSP00000354859.3:n.285+191C>T | |
| ENST00000346454.7:c.285+191C>T | ENSP00000278597.5:n.285+191C>T | |
| ENST00000362072.7:c.285+191C>T | ENSP00000354859.3:n.285+191C>T | |
| ENST00000535984.1:n.141+191C>T | ||
| ENST00000538967.5:c.285+191C>T | ENSP00000438215.1:n.285+191C>T | |
| ENST00000540600.5:n.350+191C>T | ||
| ENST00000542968.5:c.285+191C>T | ENSP00000442172.1:n.285+191C>T | |
| ENST00000543292.1:c.285+191C>T | ENSP00000438419.1:n.285+191C>T | |
| ENST00000544518.5:c.289+187C>T | ENSP00000441068.1:n.289+187C>T | |
| NM_000795.3:c.285+191C>T | NP_000786.1:n.285+191C>T | |
| NM_016574.3:c.285+191C>T | NP_057658.2:n.285+191C>T | |
| XM_017017296.2:c.285+191C>T | XP_016872785.1:n.285+191C>T | |
| NM_000795.4:c.285+191C>T MANE Select | NP_000786.1:n.285+191C>T | |
| NM_016574.4:c.285+191C>T | NP_057658.2:n.285+191C>T |