Linked Data
dbSNP Id:
rs17111967
gnomAD v2:
14-20924325-C-T
gnomAD v3:
14-20456166-C-T
gnomAD v4:
14-20456166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456166C>T , CM000676.2:g.20456166C>T | GRCh38 |
| NC_000014.8:g.20924325C>T , CM000676.1:g.20924325C>T | GRCh37 |
| NC_000014.7:g.19994165C>T | NCBI36 |
| NG_008718.1:g.6036C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216714.8:c.246+65C>T MANE Select | ENSP00000216714.3:n.246+65C>T | |
| ENST00000216714.7:c.246+65C>T | ENSP00000216714.3:n.246+65C>T | |
| ENST00000398030.8:c.246+65C>T | ENSP00000381111.4:n.246+65C>T | |
| ENST00000438886.1:c.95+65C>T | ||
| ENST00000553555.5:n.666+65C>T | ||
| ENST00000553681.5:c.246+65C>T | ENSP00000451327.1:n.246+65C>T | |
| ENST00000554325.1:c.*166+65C>T | ENSP00000450604.1:n.*166+65C>T | |
| ENST00000554813.5:n.312+65C>T | ||
| ENST00000555306.5:n.693+65C>T | ||
| ENST00000555414.5:c.246+65C>T | ENSP00000451979.1:n.246+65C>T | |
| ENST00000555839.5:c.246+65C>T | ENSP00000452460.1:n.246+65C>T | |
| ENST00000556054.5:c.246+65C>T | ENSP00000451170.1:n.246+65C>T | |
| ENST00000557054.1:c.27+494C>T | ENSP00000452212.2:n.27+494C>T | |
| ENST00000557150.5:c.195+65C>T | ENSP00000452418.1:n.195+65C>T | |
| ENST00000557159.5:n.862+65C>T | ||
| ENST00000557181.5:c.246+65C>T | ENSP00000452304.1:n.246+65C>T | |
| ENST00000557344.5:c.246+65C>T | ENSP00000452137.1:n.246+65C>T | |
| ENST00000557365.1:n.326+65C>T | ||
| ENST00000557592.5:c.195+65C>T | ENSP00000451060.1:n.195+65C>T | |
| NM_001244249.1:c.246+65C>T | NP_001231178.1:n.246+65C>T | |
| NM_001641.3:c.246+65C>T | NP_001632.2:n.246+65C>T | |
| NM_080648.2:c.246+65C>T | NP_542379.1:n.246+65C>T | |
| NM_080649.2:c.246+65C>T | NP_542380.1:n.246+65C>T | |
| XM_005267581.3:c.246+65C>T | XP_005267638.1:n.246+65C>T | |
| XM_005267582.3:c.195+65C>T | XP_005267639.1:n.195+65C>T | |
| NM_001641.4:c.246+65C>T MANE Select | NP_001632.2:n.246+65C>T | |
| NM_001244249.2:c.246+65C>T | NP_001231178.1:n.246+65C>T | |
| NM_080648.3:c.246+65C>T | NP_542379.1:n.246+65C>T | |
| NM_080649.3:c.246+65C>T | NP_542380.1:n.246+65C>T |