Linked Data
ClinVar Variation Id:
370770
ClinVar RCV Id:
RCV000411534
dbSNP Id:
rs111851815
gnomAD v2:
17-7127564-T-C
gnomAD v4:
17-7224245-T-C
ERepo:
CA16041875/MONDO:0008723/021
PubMed:
PMID:26385305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224245T>C , CM000679.2:g.7224245T>C | GRCh38 |
| NC_000017.10:g.7127564T>C , CM000679.1:g.7127564T>C | GRCh37 |
| NC_000017.9:g.7068288T>C | NCBI36 |
| NG_007975.1:g.9412T>C | |
| NG_008391.2:g.806A>G | |
| NG_033038.1:g.15300A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1532+2T>C MANE Select | ENSP00000349297.5:n.1532+2T>C | |
| ENST00000322910.9:c.*1487+2T>C | ENSP00000325395.5:n.*1487+2T>C | |
| ENST00000350303.9:c.1466+2T>C | ENSP00000344152.5:n.1466+2T>C | |
| ENST00000356839.9:c.1532+2T>C | ENSP00000349297.5:n.1532+2T>C | |
| ENST00000542255.6:c.390+2T>C | ||
| ENST00000543245.6:c.1601+2T>C | ENSP00000438689.2:n.1601+2T>C | |
| ENST00000578319.5:n.27+2T>C | ||
| ENST00000578711.1:n.741T>C | ||
| ENST00000578809.5:n.29T>C | ||
| ENST00000579391.1:n.140+2T>C | ||
| ENST00000579425.5:n.648+2T>C | ||
| ENST00000579546.1:c.272-76T>C | ||
| ENST00000579894.5:n.319+2T>C | ||
| ENST00000583074.5:n.154-76T>C | ||
| ENST00000583850.5:n.307+2T>C | ||
| ENST00000583858.5:c.464-76T>C | ||
| ENST00000585203.6:n.723+2T>C | ||
| NM_000018.3:c.1532+2T>C | NP_000009.1:n.1532+2T>C | |
| NM_001033859.2:c.1466+2T>C | NP_001029031.1:n.1466+2T>C | |
| NM_001270447.1:c.1601+2T>C | NP_001257376.1:n.1601+2T>C | |
| NM_001270448.1:c.1304+2T>C | NP_001257377.1:n.1304+2T>C | |
| XM_006721516.2:c.1532+2T>C | XP_006721579.2:n.1532+2T>C | |
| XM_011523829.1:c.1435-76T>C | XP_011522131.1:n.1435-76T>C | |
| XM_011523830.1:c.1435-76T>C | XP_011522132.1:n.1435-76T>C | |
| XR_934021.1:n.1639+2T>C | ||
| XR_934022.1:n.1542-76T>C | ||
| XR_934023.1:n.1542-76T>C | ||
| XM_006721516.3:c.1532+2T>C | XP_006721579.2:n.1532+2T>C | |
| XM_011523829.2:c.1435-76T>C | XP_011522131.1:n.1435-76T>C | |
| XM_011523830.2:c.1435-76T>C | XP_011522132.1:n.1435-76T>C | |
| XM_024450741.1:c.1435-76T>C | XP_024306509.1:n.1435-76T>C | |
| XR_934021.2:n.1591+2T>C | ||
| XR_934022.2:n.1494-76T>C | ||
| XR_934023.2:n.1494-76T>C | ||
| NM_000018.4:c.1532+2T>C MANE Select | NP_000009.1:n.1532+2T>C | |
| NM_001033859.3:c.1466+2T>C | NP_001029031.1:n.1466+2T>C | |
| NM_001270447.2:c.1601+2T>C | NP_001257376.1:n.1601+2T>C | |
| NM_001270448.2:c.1304+2T>C | NP_001257377.1:n.1304+2T>C |