Linked Data
dbSNP Id:
rs747665958
ExAC:
14:57268616 G / A
gnomAD v2:
14-57268616-G-A
gnomAD v3:
14-56801898-G-A
gnomAD v4:
14-56801898-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56801898G>A , CM000676.2:g.56801898G>A | GRCh38 |
| NC_000014.8:g.57268616G>A , CM000676.1:g.57268616G>A | GRCh37 |
| NC_000014.7:g.56338369G>A | NCBI36 |
| NG_008204.1:g.13569C>T | |
| NG_008204.2:g.19796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.731C>T | ENSP00000451357.2:p.Ala244Val | |
| ENST00000555804.2:c.707C>T | ENSP00000451272.2:p.Ala236Val | |
| ENST00000685244.1:c.707C>T | ENSP00000508798.1:p.Ala236Val | |
| ENST00000339475.10:c.707C>T | ENSP00000343819.5:p.Ala236Val | |
| ENST00000408990.8:c.707C>T | ENSP00000386185.3:p.Ala236Val | |
| ENST00000672125.1:c.361-17C>T | ENSP00000500744.1:n.361-17C>T | |
| ENST00000672264.2:c.731C>T MANE Select | ENSP00000500115.1:p.Ala244Val | |
| ENST00000673035.1:c.707C>T | ENSP00000500061.1:p.Ala236Val | |
| ENST00000673481.1:c.731C>T | ENSP00000500595.1:p.Ala244Val | |
| ENST00000339475.9:c.731C>T | ENSP00000343819.4:p.Ala244Val | |
| ENST00000408990.7:c.707C>T | ENSP00000386185.3:p.Ala236Val | |
| ENST00000554788.5:c.*447C>T | ENSP00000474486.1:n.*447C>T | |
| ENST00000555006.5:c.707C>T | ENSP00000452336.1:p.Ala236Val | |
| NM_001270523.1:c.707C>T | NP_001257452.1:p.Ala236Val | |
| NM_001270524.1:c.707C>T | NP_001257453.1:p.Ala236Val | |
| NM_001270525.1:c.731C>T | NP_001257454.1:p.Ala244Val | |
| NM_021728.3:c.731C>T | NP_068374.1:p.Ala244Val | |
| NM_172337.2:c.707C>T | NP_758840.1:p.Ala236Val | |
| NR_073034.1:n.839C>T | ||
| NR_073036.1:n.762C>T | ||
| NM_001270523.2:c.707C>T | NP_001257452.1:p.Ala236Val | |
| NM_001270524.2:c.707C>T | NP_001257453.1:p.Ala236Val | |
| NM_001270525.2:c.731C>T | NP_001257454.1:p.Ala244Val | |
| NM_021728.4:c.731C>T MANE Select | NP_068374.1:p.Ala244Val | |
| NM_172337.3:c.707C>T | NP_758840.1:p.Ala236Val | |
| NR_073034.2:n.842C>T | ||
| NR_073036.2:n.766C>T |