Linked Data
ClinVar Variation Id:
2632666
ClinVar RCV Id:
RCV003406248
dbSNP Id:
rs201948484
gnomAD v4:
19-41341935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341935G>A , CM000681.2:g.41341935G>A | GRCh38 |
| NC_000019.9:g.41847840G>A , CM000681.1:g.41847840G>A | GRCh37 |
| NC_000019.8:g.46539680G>A | NCBI36 |
| NG_013364.1:g.16992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.808C>T MANE Select | ENSP00000221930.4:p.His270Tyr | |
| ENST00000600196.2:c.712+235C>T | ENSP00000504008.1:n.712+235C>T | |
| ENST00000677934.1:c.634+2812C>T | ENSP00000504769.1:n.634+2812C>T | |
| ENST00000221930.5:c.808C>T | ENSP00000221930.4:p.His270Tyr | |
| ENST00000598758.5:c.96C>T | ||
| ENST00000600196.1:n.172+235C>T | ||
| NM_000660.5:c.808C>T | NP_000651.3:p.His270Tyr | |
| XM_011527242.1:c.811C>T | XP_011525544.1:p.His271Tyr | |
| NM_000660.6:c.808C>T | NP_000651.3:p.His270Tyr | |
| XM_011527242.2:c.811C>T | XP_011525544.1:p.His271Tyr | |
| NM_000660.7:c.808C>T MANE Select | NP_000651.3:p.His270Tyr |