Linked Data
dbSNP Id:
rs17793829
gnomAD v2:
14-91022185-C-T
gnomAD v3:
14-90555841-C-T
gnomAD v4:
14-90555841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90555841C>T , CM000676.2:g.90555841C>T | GRCh38 |
| NC_000014.8:g.91022185C>T , CM000676.1:g.91022185C>T | GRCh37 |
| NC_000014.7:g.90091938C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328459.11:c.2311-14252G>A MANE Select | ENSP00000336127.4:n.2311-14252G>A | |
| ENST00000328459.10:c.2311-14252G>A | ENSP00000336127.4:n.2311-14252G>A | |
| ENST00000553972.5:c.772-14252G>A | ENSP00000451440.1:n.772-14252G>A | |
| ENST00000554654.5:n.900-14252G>A | ||
| ENST00000555005.5:c.1729-14252G>A | ENSP00000451825.1:n.1729-14252G>A | |
| ENST00000555894.5:c.335-14252G>A | ENSP00000452594.1:n.335-14252G>A | |
| ENST00000557292.1:c.593-14252G>A | ||
| NM_001010854.1:c.2311-14252G>A | NP_001010854.1:n.2311-14252G>A | |
| XM_005267367.1:c.1750-14252G>A | XP_005267424.1:n.1750-14252G>A | |
| XM_011536497.1:c.2218-14252G>A | XP_011534799.1:n.2218-14252G>A | |
| XM_011536498.1:c.1750-14252G>A | XP_011534800.1:n.1750-14252G>A | |
| NM_001320421.1:c.2056-14252G>A | NP_001307350.1:n.2056-14252G>A | |
| XM_017021044.2:c.2524-14252G>A | XP_016876533.1:n.2524-14252G>A | |
| XM_017021045.2:c.2362-14252G>A | XP_016876534.1:n.2362-14252G>A | |
| XM_017021046.1:c.2005-14252G>A | XP_016876535.1:n.2005-14252G>A | |
| XM_017021047.1:c.1537-14252G>A | XP_016876536.1:n.1537-14252G>A | |
| NM_001010854.2:c.2311-14252G>A MANE Select | NP_001010854.1:n.2311-14252G>A | |
| NM_001320421.2:c.2056-14252G>A | NP_001307350.1:n.2056-14252G>A | |
| NM_001401365.1:c.2524-14252G>A | NP_001388294.1:n.2524-14252G>A |