Linked Data
ClinVar Variation Id:
555507
ClinVar RCV Id:
RCV000671343
dbSNP Id:
rs202244937
ExAC:
17:7124046 C / T
gnomAD v2:
17-7124046-C-T
gnomAD v3:
17-7220727-C-T
gnomAD v4:
17-7220727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220727C>T , CM000679.2:g.7220727C>T | GRCh38 |
| NC_000017.10:g.7124046C>T , CM000679.1:g.7124046C>T | GRCh37 |
| NC_000017.9:g.7064770C>T | NCBI36 |
| NG_007975.1:g.5894C>T | |
| NG_008391.2:g.4324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.278-39C>T MANE Select | ENSP00000349297.5:n.278-39C>T | |
| ENST00000322910.9:c.*233-39C>T | ENSP00000325395.5:n.*233-39C>T | |
| ENST00000350303.9:c.212-39C>T | ENSP00000344152.5:n.212-39C>T | |
| ENST00000356839.9:c.278-39C>T | ENSP00000349297.5:n.278-39C>T | |
| ENST00000543245.6:c.347-39C>T | ENSP00000438689.2:n.347-39C>T | |
| ENST00000577191.5:n.355-39C>T | ||
| ENST00000577433.5:n.486-39C>T | ||
| ENST00000577857.5:n.229-39C>T | ||
| ENST00000578421.1:n.536C>T | ||
| ENST00000579286.5:n.459-39C>T | ||
| ENST00000579886.2:c.201+201C>T | ENSP00000463246.1:n.201+201C>T | |
| ENST00000580263.5:n.492C>T | ||
| ENST00000581562.5:n.325-39C>T | ||
| ENST00000582056.5:n.368-39C>T | ||
| ENST00000582166.1:n.166-39C>T | ||
| ENST00000582356.5:n.477-39C>T | ||
| ENST00000583312.5:c.278-39C>T | ENSP00000467920.1:n.278-39C>T | |
| ENST00000584103.5:c.278-39C>T | ENSP00000465353.1:n.278-39C>T | |
| NM_000018.3:c.278-39C>T | NP_000009.1:n.278-39C>T | |
| NM_001033859.2:c.212-39C>T | NP_001029031.1:n.212-39C>T | |
| NM_001270447.1:c.347-39C>T | NP_001257376.1:n.347-39C>T | |
| NM_001270448.1:c.50-39C>T | NP_001257377.1:n.50-39C>T | |
| XM_006721516.2:c.278-39C>T | XP_006721579.2:n.278-39C>T | |
| XM_011523829.1:c.278-39C>T | XP_011522131.1:n.278-39C>T | |
| XM_011523830.1:c.278-39C>T | XP_011522132.1:n.278-39C>T | |
| XR_934021.1:n.385-39C>T | ||
| XR_934022.1:n.385-39C>T | ||
| XR_934023.1:n.385-39C>T | ||
| XM_006721516.3:c.278-39C>T | XP_006721579.2:n.278-39C>T | |
| XM_011523829.2:c.278-39C>T | XP_011522131.1:n.278-39C>T | |
| XM_011523830.2:c.278-39C>T | XP_011522132.1:n.278-39C>T | |
| XM_024450741.1:c.278-39C>T | XP_024306509.1:n.278-39C>T | |
| XR_934021.2:n.337-39C>T | ||
| XR_934022.2:n.337-39C>T | ||
| XR_934023.2:n.337-39C>T | ||
| NM_000018.4:c.278-39C>T MANE Select | NP_000009.1:n.278-39C>T | |
| NM_001033859.3:c.212-39C>T | NP_001029031.1:n.212-39C>T | |
| NM_001270447.2:c.347-39C>T | NP_001257376.1:n.347-39C>T | |
| NM_001270448.2:c.50-39C>T | NP_001257377.1:n.50-39C>T |