Linked Data
ClinVar Variation Id:
1327668
ClinVar RCV Id:
RCV001794610
dbSNP Id:
rs1310135591
gnomAD v4:
7-19116792-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116792T>G , CM000669.2:g.19116792T>G | GRCh38 |
| NC_000007.13:g.19156415T>G , CM000669.1:g.19156415T>G | GRCh37 |
| NC_000007.12:g.19122940T>G | NCBI36 |
| NG_008114.1:g.5881A>C | |
| NG_008114.2:g.5881A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.530A>C MANE Select | ENSP00000242261.5:p.Tyr177Ser | |
| ENST00000242261.5:c.530A>C | ENSP00000242261.5:p.Tyr177Ser | |
| ENST00000354571.5:c.327A>C | ||
| ENST00000443687.5:c.133A>C | ||
| NM_000474.3:c.530A>C | NP_000465.1:p.Tyr177Ser | |
| XM_011515496.1:c.530A>C | XP_011513798.1:p.Tyr177Ser | |
| NR_149001.1:n.881A>C | ||
| NM_000474.4:c.530A>C MANE Select | NP_000465.1:p.Tyr177Ser | |
| NR_149001.2:n.845A>C |