Linked Data
dbSNP Id:
rs2122434475
gnomAD v4:
19-48966379-C-T
MyVariant Identifiers:
chr19:g.49469636C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966379C>T , CM000681.2:g.48966379C>T | GRCh38 |
| NC_000019.9:g.49469636C>T , CM000681.1:g.49469636C>T | GRCh37 |
| NC_000019.8:g.54161448C>T | NCBI36 |
| NG_008152.1:g.6071C>T | |
| NG_012923.1:g.31975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.348C>T MANE Select | ENSP00000366525.2:p.Ala116= | |
| ENST00000331825.10:c.348C>T | ENSP00000366525.2:p.Ala116= | |
| ENST00000622577.2:c.348C>T | ENSP00000484043.1:p.Ala116= | |
| NM_000146.3:c.348C>T | NP_000137.2:p.Ala116= | |
| XM_024451447.1:c.858C>T | XP_024307215.1:p.Ala286= | |
| NM_000146.4:c.348C>T MANE Select | NP_000137.2:p.Ala116= |