Linked Data
ClinVar Variation Id:
383137
ClinVar RCV Id:
RCV001105999
RCV001105997
RCV001105998
RCV000726623
RCV001106000
RCV001848766
RCV004533016
RCV003993959
dbSNP Id:
rs144001072
ExAC:
10:102750642 T / C
gnomAD v2:
10-102750642-T-C
gnomAD v3:
10-100990885-T-C
gnomAD v4:
10-100990885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100990885T>C , CM000672.2:g.100990885T>C | GRCh38 |
| NC_000010.10:g.102750642T>C , CM000672.1:g.102750642T>C | GRCh37 |
| NC_000010.9:g.102740632T>C | NCBI36 |
| NG_011646.1:g.1631A>G | |
| NG_012624.1:g.8350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1609T>C MANE Select | ENSP00000309595.2:p.Tyr537His | |
| ENST00000370228.2:c.1609T>C | ENSP00000359248.1:p.Tyr537His | |
| ENST00000643860.1:c.*133T>C | ENSP00000494389.1:n.*133T>C | |
| ENST00000646226.1:n.424T>C | ||
| ENST00000647109.1:c.268T>C | ||
| ENST00000650396.1:c.690T>C | ||
| ENST00000311916.6:c.1609T>C | ENSP00000309595.2:p.Tyr537His | |
| ENST00000370228.1:c.1609T>C | ENSP00000359248.1:p.Tyr537His | |
| ENST00000473656.5:n.430T>C | ||
| ENST00000476766.5:n.495T>C | ||
| NM_001163812.1:c.1609T>C | NP_001157284.1:p.Tyr537His | |
| NM_001163813.1:c.247T>C | NP_001157285.1:p.Tyr83His | |
| NM_001163814.1:c.247T>C | NP_001157286.1:p.Tyr83His | |
| NM_021830.4:c.1609T>C | NP_068602.2:p.Tyr537His | |
| XM_011539974.1:c.247T>C | XP_011538276.1:p.Tyr83His | |
| XM_011539975.1:c.247T>C | XP_011538277.1:p.Tyr83His | |
| XR_945788.1:n.2380T>C | ||
| XM_011539975.2:c.247T>C | XP_011538277.1:p.Tyr83His | |
| XM_017016437.1:c.247T>C | XP_016871926.1:p.Tyr83His | |
| XR_001747142.1:n.1903T>C | ||
| XR_001747144.1:n.1841T>C | ||
| XR_002956991.1:n.1721T>C | ||
| XR_945788.2:n.1721T>C | ||
| NM_021830.5:c.1609T>C MANE Select | NP_068602.2:p.Tyr537His | |
| NM_001163812.2:c.1609T>C | NP_001157284.1:p.Tyr537His | |
| NM_001163813.2:c.247T>C | NP_001157285.1:p.Tyr83His | |
| NM_001163814.2:c.247T>C | NP_001157286.1:p.Tyr83His | |
| NM_001368275.1:c.247T>C | NP_001355204.1:p.Tyr83His | |
| NR_160738.1:n.2397T>C | ||
| NR_160739.1:n.557T>C | ||
| NR_160740.1:n.2215T>C | ||
| NR_160741.1:n.2215T>C | ||
| NR_160742.1:n.2335T>C |