Linked Data
dbSNP Id:
rs200460988
ExAC:
14:103389043 G / T
gnomAD v2:
14-103389043-G-T
gnomAD v3:
14-102922706-G-T
gnomAD v4:
14-102922706-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922706G>T , CM000676.2:g.102922706G>T | GRCh38 |
| NC_000014.8:g.103389043G>T , CM000676.1:g.103389043G>T | GRCh37 |
| NC_000014.7:g.102458796G>T | NCBI36 |
| NG_008276.2:g.5051G>T , LRG_642:g.5051G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.18G>T MANE Select | ENSP00000299155.6:p.Arg6= | |
| ENST00000299155.9:c.18G>T | ENSP00000299155.5:p.Arg6= | |
| NM_030943.3:c.18G>T , LRG_642t1:c.18G>T | NP_112205.2:p.Arg6= | |
| XM_011537202.1:c.-164G>T | XP_011535504.1:n.-164G>T | |
| XM_011537202.3:c.-164G>T | XP_011535504.1:n.-164G>T | |
| XM_024449714.1:c.114G>T | XP_024305482.1:p.Arg38= | |
| NM_030943.4:c.18G>T MANE Select | NP_112205.2:p.Arg6= |