Linked Data
gnomAD v4:
14-102922671-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922671G>T , CM000676.2:g.102922671G>T | GRCh38 |
| NC_000014.8:g.103389008G>T , CM000676.1:g.103389008G>T | GRCh37 |
| NC_000014.7:g.102458761G>T | NCBI36 |
| NG_008276.2:g.5016G>T , LRG_642:g.5016G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-18G>T MANE Select | ENSP00000299155.6:n.-18G>T | |
| ENST00000299155.9:c.-18G>T | ENSP00000299155.5:n.-18G>T | |
| NM_030943.3:c.-18G>T , LRG_642t1:c.-18G>T | NP_112205.2:n.-18G>T | |
| XM_011537202.1:c.-199G>T | XP_011535504.1:n.-199G>T | |
| XM_011537202.3:c.-199G>T | XP_011535504.1:n.-199G>T | |
| XM_024449714.1:c.79G>T | XP_024305482.1:p.Ala27Ser | |
| NM_030943.4:c.-18G>T MANE Select | NP_112205.2:n.-18G>T |