Linked Data
ClinVar Variation Id:
550549
ClinVar RCV Id:
RCV000665325
dbSNP Id:
rs770876053
gnomAD v2:
17-7127262-T-C
gnomAD v4:
17-7223943-T-C
MyVariant Identifiers:
chr17:g.7127262T>C (hg19)
chr17:g.7127262_7127265delinsCATA (hg19)
chr17:g.7223943T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223943T>C , CM000679.2:g.7223943T>C | GRCh38 |
| NC_000017.10:g.7127262T>C , CM000679.1:g.7127262T>C | GRCh37 |
| NC_000017.9:g.7067986T>C | NCBI36 |
| NG_007975.1:g.9110T>C | |
| NG_008391.2:g.1108A>G | |
| NG_033038.1:g.15602A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1333-25T>C MANE Select | ENSP00000349297.5:n.1333-25T>C | |
| ENST00000322910.9:c.*1288-25T>C | ENSP00000325395.5:n.*1288-25T>C | |
| ENST00000350303.9:c.1267-25T>C | ENSP00000344152.5:n.1267-25T>C | |
| ENST00000356839.9:c.1333-25T>C | ENSP00000349297.5:n.1333-25T>C | |
| ENST00000542255.6:c.191-25T>C | ||
| ENST00000543245.6:c.1402-25T>C | ENSP00000438689.2:n.1402-25T>C | |
| ENST00000578711.1:n.439T>C | ||
| ENST00000579425.5:n.424T>C | ||
| ENST00000579546.1:c.170-25T>C | ||
| ENST00000579894.5:n.19T>C | ||
| ENST00000583074.5:n.52-25T>C | ||
| ENST00000583850.5:n.108-25T>C | ||
| ENST00000583858.5:c.362-25T>C | ||
| ENST00000585203.6:n.524-25T>C | ||
| NM_000018.3:c.1333-25T>C | NP_000009.1:n.1333-25T>C | |
| NM_001033859.2:c.1267-25T>C | NP_001029031.1:n.1267-25T>C | |
| NM_001270447.1:c.1402-25T>C | NP_001257376.1:n.1402-25T>C | |
| NM_001270448.1:c.1105-25T>C | NP_001257377.1:n.1105-25T>C | |
| XM_006721516.2:c.1333-25T>C | XP_006721579.2:n.1333-25T>C | |
| XM_011523829.1:c.1333-25T>C | XP_011522131.1:n.1333-25T>C | |
| XM_011523830.1:c.1333-25T>C | XP_011522132.1:n.1333-25T>C | |
| XR_934021.1:n.1440-25T>C | ||
| XR_934022.1:n.1440-25T>C | ||
| XR_934023.1:n.1440-25T>C | ||
| XM_006721516.3:c.1333-25T>C | XP_006721579.2:n.1333-25T>C | |
| XM_011523829.2:c.1333-25T>C | XP_011522131.1:n.1333-25T>C | |
| XM_011523830.2:c.1333-25T>C | XP_011522132.1:n.1333-25T>C | |
| XM_024450741.1:c.1333-25T>C | XP_024306509.1:n.1333-25T>C | |
| XR_934021.2:n.1392-25T>C | ||
| XR_934022.2:n.1392-25T>C | ||
| XR_934023.2:n.1392-25T>C | ||
| NM_000018.4:c.1333-25T>C MANE Select | NP_000009.1:n.1333-25T>C | |
| NM_001033859.3:c.1267-25T>C | NP_001029031.1:n.1267-25T>C | |
| NM_001270447.2:c.1402-25T>C | NP_001257376.1:n.1402-25T>C | |
| NM_001270448.2:c.1105-25T>C | NP_001257377.1:n.1105-25T>C |