Linked Data
dbSNP Id:
rs754789048
ExAC:
17:7123376 G / C
gnomAD v2:
17-7123376-G-C
gnomAD v4:
17-7220057-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220057G>C , CM000679.2:g.7220057G>C | GRCh38 |
| NC_000017.10:g.7123376G>C , CM000679.1:g.7123376G>C | GRCh37 |
| NC_000017.9:g.7064100G>C | NCBI36 |
| NG_007975.1:g.5224G>C | |
| NG_008391.2:g.4994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.62+11G>C MANE Select | ENSP00000349297.5:n.62+11G>C | |
| ENST00000322910.9:c.73G>C | ENSP00000325395.5:p.Asp25His | |
| ENST00000350303.9:c.62+11G>C | ENSP00000344152.5:n.62+11G>C | |
| ENST00000356839.9:c.62+11G>C | ENSP00000349297.5:n.62+11G>C | |
| ENST00000543245.6:c.132-65G>C | ENSP00000438689.2:n.132-65G>C | |
| ENST00000577191.5:n.139+11G>C | ||
| ENST00000577857.5:n.152+11G>C | ||
| ENST00000578269.5:n.169+11G>C | ||
| ENST00000578421.1:n.132G>C | ||
| ENST00000579286.5:n.169+11G>C | ||
| ENST00000579886.2:c.62+11G>C | ENSP00000463246.1:n.62+11G>C | |
| ENST00000580263.5:n.152+11G>C | ||
| ENST00000581562.5:n.109+11G>C | ||
| ENST00000582056.5:n.152+11G>C | ||
| ENST00000582356.5:n.187+11G>C | ||
| ENST00000583312.5:c.62+11G>C | ENSP00000467920.1:n.62+11G>C | |
| ENST00000584103.5:c.62+11G>C | ENSP00000465353.1:n.62+11G>C | |
| NM_000018.3:c.62+11G>C | NP_000009.1:n.62+11G>C | |
| NM_001033859.2:c.62+11G>C | NP_001029031.1:n.62+11G>C | |
| NM_001270447.1:c.132-65G>C | NP_001257376.1:n.132-65G>C | |
| NM_001270448.1:c.-231G>C | NP_001257377.1:n.-231G>C | |
| XM_006721516.2:c.62+11G>C | XP_006721579.2:n.62+11G>C | |
| XM_011523829.1:c.62+11G>C | XP_011522131.1:n.62+11G>C | |
| XM_011523830.1:c.62+11G>C | XP_011522132.1:n.62+11G>C | |
| XR_934021.1:n.169+11G>C | ||
| XR_934022.1:n.169+11G>C | ||
| XR_934023.1:n.169+11G>C | ||
| XM_006721516.3:c.62+11G>C | XP_006721579.2:n.62+11G>C | |
| XM_011523829.2:c.62+11G>C | XP_011522131.1:n.62+11G>C | |
| XM_011523830.2:c.62+11G>C | XP_011522132.1:n.62+11G>C | |
| XM_024450741.1:c.62+11G>C | XP_024306509.1:n.62+11G>C | |
| XR_934021.2:n.121+11G>C | ||
| XR_934022.2:n.121+11G>C | ||
| XR_934023.2:n.121+11G>C | ||
| NM_000018.4:c.62+11G>C MANE Select | NP_000009.1:n.62+11G>C | |
| NM_001033859.3:c.62+11G>C | NP_001029031.1:n.62+11G>C | |
| NM_001270447.2:c.132-65G>C | NP_001257376.1:n.132-65G>C | |
| NM_001270448.2:c.-231G>C | NP_001257377.1:n.-231G>C |