Linked Data
dbSNP Id:
rs1292288729
gnomAD v2:
19-41515280-T-C
gnomAD v3:
19-41009375-T-C
gnomAD v4:
19-41009375-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41009375T>C , CM000681.2:g.41009375T>C | GRCh38 |
| NC_000019.9:g.41515280T>C , CM000681.1:g.41515280T>C | GRCh37 |
| NC_000019.8:g.46207120T>C | NCBI36 |
| NG_007929.1:g.23077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.802T>C MANE Select | ENSP00000324648.2:p.Tyr268His | |
| ENST00000598834.2:c.826T>C | ||
| ENST00000324071.8:c.802T>C | ENSP00000324648.2:p.Tyr268His | |
| ENST00000593831.1:c.257-2923T>C | ENSP00000470582.1:n.257-2923T>C | |
| NM_000767.4:c.802T>C | NP_000758.1:p.Tyr268His | |
| XM_005258569.3:c.802T>C | XP_005258626.1:p.Tyr268His | |
| XM_006723050.2:c.802T>C | XP_006723113.1:p.Tyr268His | |
| XM_011526546.1:c.802T>C | XP_011524848.1:p.Tyr268His | |
| XM_011526547.1:c.802T>C | XP_011524849.1:p.Tyr268His | |
| XM_011526548.1:c.485-2923T>C | XP_011524850.1:n.485-2923T>C | |
| XM_011526549.1:c.211T>C | XP_011524851.1:p.Tyr71His | |
| XM_011526550.1:c.365-2923T>C | XP_011524852.1:n.365-2923T>C | |
| NM_000767.5:c.802T>C MANE Select | NP_000758.1:p.Tyr268His |