Linked Data
ClinVar Variation Id:
1202260
ClinVar RCV Id:
RCV001567883
dbSNP Id:
rs79586702
gnomAD v2:
3-128621646-G-C
gnomAD v3:
3-128902803-G-C
gnomAD v4:
3-128902803-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128902803G>C , CM000665.2:g.128902803G>C | GRCh38 |
| NC_000003.11:g.128621646G>C , CM000665.1:g.128621646G>C | GRCh37 |
| NC_000003.10:g.130104336G>C | NCBI36 |
| NG_017064.1:g.28314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.958+175G>C MANE Select | ENSP00000312618.7:n.958+175G>C | |
| ENST00000511325.2:n.1036+175G>C | ||
| ENST00000679399.1:c.*852+175G>C | ENSP00000505434.1:n.*852+175G>C | |
| ENST00000679431.1:c.*834+171G>C | ENSP00000506440.1:n.*834+171G>C | |
| ENST00000679613.1:c.958+175G>C | ENSP00000504971.1:n.958+175G>C | |
| ENST00000679715.1:c.589+175G>C | ENSP00000506228.1:n.589+175G>C | |
| ENST00000679824.1:c.*2264+175G>C | ENSP00000505516.1:n.*2264+175G>C | |
| ENST00000679990.1:n.1193+175G>C | ||
| ENST00000680636.1:c.958+175G>C | ENSP00000504886.1:n.958+175G>C | |
| ENST00000680744.1:c.*311+175G>C | ENSP00000505243.1:n.*311+175G>C | |
| ENST00000680764.1:c.*2362+171G>C | ENSP00000505126.1:n.*2362+171G>C | |
| ENST00000681319.1:n.1036+175G>C | ||
| ENST00000681367.1:c.958+175G>C | ENSP00000505309.1:n.958+175G>C | |
| ENST00000681552.1:c.958+175G>C | ENSP00000505699.1:n.958+175G>C | |
| ENST00000681583.1:c.958+175G>C | ENSP00000506340.1:n.958+175G>C | |
| ENST00000681585.1:c.958+175G>C | ENSP00000506316.1:n.958+175G>C | |
| ENST00000681589.1:n.1172+175G>C | ||
| ENST00000681784.1:n.1036+175G>C | ||
| ENST00000681886.1:c.*151+175G>C | ENSP00000506500.1:n.*151+175G>C | |
| ENST00000308982.11:c.958+175G>C | ENSP00000312618.7:n.958+175G>C | |
| ENST00000505192.5:c.*654+175G>C | ENSP00000426277.1:n.*654+175G>C | |
| ENST00000505867.5:c.*758+175G>C | ENSP00000425346.1:n.*758+175G>C | |
| ENST00000508971.1:c.247+175G>C | ENSP00000422683.1:n.247+175G>C | |
| ENST00000511227.5:c.*852+175G>C | ENSP00000425226.1:n.*852+175G>C | |
| ENST00000511526.5:n.463+171G>C | ||
| NM_014049.4:c.958+175G>C | NP_054768.2:n.958+175G>C | |
| NR_033426.1:n.1336+175G>C | ||
| XM_011512742.1:c.589+175G>C | XP_011511044.1:n.589+175G>C | |
| XR_427367.1:n.1034+171G>C | ||
| XM_024453484.1:c.589+175G>C | XP_024309252.1:n.589+175G>C | |
| XM_024453485.1:c.589+175G>C | XP_024309253.1:n.589+175G>C | |
| XR_427367.3:n.1034+171G>C | ||
| NM_014049.5:c.958+175G>C MANE Select | NP_054768.2:n.958+175G>C | |
| NR_033426.2:n.1206+175G>C |