Linked Data
dbSNP Id:
rs1883724647
gnomAD v4:
14-44934509-G-A
MyVariant Identifiers:
chr14:g.45403712G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44934509G>A , CM000676.2:g.44934509G>A | GRCh38 |
| NC_000014.8:g.45403712G>A , CM000676.1:g.45403712G>A | GRCh37 |
| NC_000014.7:g.44473462G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396128.9:c.949C>T MANE Select | ENSP00000379434.4:p.Leu317= | |
| ENST00000355081.3:c.991C>T | ENSP00000347193.2:p.Leu331= | |
| ENST00000396128.8:c.949C>T | ENSP00000379434.3:p.Leu317= | |
| NM_001308112.1:c.991C>T | NP_001295041.1:p.Leu331= | |
| NM_017658.3:c.949C>T | NP_060128.2:p.Leu317= | |
| NM_017658.4:c.949C>T | NP_060128.2:p.Leu317= | |
| XM_005267770.2:c.949C>T | XP_005267827.1:p.Leu317= | |
| XM_011536847.1:c.949C>T | XP_011535149.1:p.Leu317= | |
| XM_011536848.1:c.949C>T | XP_011535150.1:p.Leu317= | |
| XM_011536849.1:c.991C>T | XP_011535151.1:p.Leu331= | |
| XM_005267770.4:c.949C>T | XP_005267827.1:p.Leu317= | |
| XM_011536847.3:c.949C>T | XP_011535149.1:p.Leu317= | |
| XM_011536849.2:c.991C>T | XP_011535151.1:p.Leu331= | |
| XM_024449635.1:c.949C>T | XP_024305403.1:p.Leu317= | |
| NM_001308112.2:c.991C>T | NP_001295041.1:p.Leu331= | |
| NM_017658.5:c.949C>T MANE Select | NP_060128.2:p.Leu317= |