Linked Data
ClinVar Variation Id:
224642
ClinVar RCV Id:
RCV000210275
dbSNP Id:
rs183208638
gnomAD v2:
17-37828497-G-A
gnomAD v3:
17-39672244-G-A
gnomAD v4:
17-39672244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39672244G>A , CM000679.2:g.39672244G>A | GRCh38 |
| NC_000017.10:g.37828497G>A , CM000679.1:g.37828497G>A | GRCh37 |
| NC_000017.9:g.35082023G>A | NCBI36 |
| NG_034125.1:g.20827C>T | |
| NG_042278.1:g.9264G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300658.9:c.*559C>T MANE Select | ENSP00000300658.4:n.*559C>T | |
| ENST00000300658.8:c.*559C>T | ENSP00000300658.4:n.*559C>T | |
| ENST00000309862.10:n.1907C>T | ||
| ENST00000378011.8:c.*559C>T | ENSP00000367250.4:n.*559C>T | |
| ENST00000579146.5:c.*608C>T | ENSP00000463234.1:n.*608C>T | |
| ENST00000614824.4:c.*559C>T | ENSP00000480165.1:n.*559C>T | |
| ENST00000619169.4:c.448C>T | ENSP00000478028.1:p.His150Tyr | |
| NM_001291726.1:c.*559C>T | NP_001278655.1:n.*559C>T | |
| NM_001291728.1:c.*559C>T | NP_001278657.1:n.*559C>T | |
| NM_001291730.1:c.*559C>T | NP_001278659.1:n.*559C>T | |
| NM_001291732.1:c.*559C>T | NP_001278661.1:n.*559C>T | |
| NM_001291733.1:c.*608C>T | NP_001278662.1:n.*608C>T | |
| NM_033419.4:c.*559C>T | NP_219487.3:n.*559C>T | |
| XM_011525481.1:c.*559C>T | XP_011523783.1:n.*559C>T | |
| XM_011525480.2:c.*591C>T | XP_011523782.1:n.*591C>T | |
| XM_011525481.2:c.*559C>T | XP_011523783.1:n.*559C>T | |
| XR_002958086.1:n.2049C>T | ||
| NM_033419.5:c.*559C>T MANE Select | NP_219487.3:n.*559C>T | |
| NM_001291726.2:c.*559C>T | NP_001278655.1:n.*559C>T | |
| NM_001291728.2:c.*559C>T | NP_001278657.1:n.*559C>T | |
| NM_001291730.2:c.*559C>T | NP_001278659.1:n.*559C>T | |
| NM_001291732.2:c.*559C>T | NP_001278661.1:n.*559C>T | |
| NM_001291733.2:c.*608C>T | NP_001278662.1:n.*608C>T |