Linked Data
dbSNP Id:
rs898563542
gnomAD v4:
6-35805841-G-T
MyVariant Identifiers:
chr6:g.35773618G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805841G>T , CM000668.2:g.35805841G>T | GRCh38 |
| NC_000006.11:g.35773618G>T , CM000668.1:g.35773618G>T | GRCh37 |
| NC_000006.10:g.35881596G>T | NCBI36 |
| NG_012184.1:g.5548G>T | |
| NG_012184.2:g.5548G>T | |
| NG_012184.3:g.13636G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.171G>T MANE Select | ENSP00000353346.1:p.Pro57= | |
| ENST00000651132.1:c.171G>T | ENSP00000498322.1:p.Pro57= | |
| ENST00000651676.1:c.171G>T | ENSP00000498699.1:p.Pro57= | |
| ENST00000651994.1:c.171G>T | ENSP00000498310.1:p.Pro57= | |
| ENST00000652718.1:c.3G>T | ENSP00000498866.1:p.Pro1= | |
| ENST00000360215.2:c.171G>T | ENSP00000353346.1:p.Pro57= | |
| NM_182548.3:c.171G>T | NP_872354.1:p.Pro57= | |
| XM_011514403.1:c.171G>T | XP_011512705.1:p.Pro57= | |
| NM_182548.4:c.171G>T MANE Select | NP_872354.1:p.Pro57= |