Linked Data
dbSNP Id:
rs371896155
ExAC:
6:32149459 G / C
gnomAD v2:
6-32149459-G-C
gnomAD v3:
6-32181682-G-C
gnomAD v4:
6-32181682-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181682G>C , CM000668.2:g.32181682G>C | GRCh38 |
| NC_000006.11:g.32149459G>C , CM000668.1:g.32149459G>C | GRCh37 |
| NC_000006.10:g.32257437G>C | NCBI36 |
| NG_029868.1:g.7641C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.965-50C>G MANE Select | ENSP00000364217.4:n.965-50C>G | |
| ENST00000375055.6:c.965-50C>G | ENSP00000364195.2:n.965-50C>G | |
| ENST00000375065.6:c.152-50C>G | ENSP00000364206.6:n.152-50C>G | |
| ENST00000375067.7:c.810-50C>G | ENSP00000364208.3:n.810-50C>G | |
| ENST00000375069.7:c.1013-50C>G | ENSP00000364210.4:n.1013-50C>G | |
| ENST00000375070.7:c.662-205C>G | ENSP00000364211.4:n.662-205C>G | |
| ENST00000375076.8:c.965-50C>G | ENSP00000364217.4:n.965-50C>G | |
| ENST00000438221.6:c.1013-50C>G | ENSP00000387887.2:n.1013-50C>G | |
| ENST00000473619.5:n.507-50C>G | ||
| ENST00000484849.5:n.1172-50C>G | ||
| ENST00000488669.5:n.507-50C>G | ||
| ENST00000620802.4:c.283-249C>G | ENSP00000484081.1:n.283-249C>G | |
| NM_001136.4:c.965-50C>G | NP_001127.1:n.965-50C>G | |
| NM_001206929.1:c.1013-50C>G | NP_001193858.1:n.1013-50C>G | |
| NM_001206932.1:c.923-50C>G | NP_001193861.1:n.923-50C>G | |
| NM_001206934.1:c.1013-50C>G | NP_001193863.1:n.1013-50C>G | |
| NM_001206936.1:c.913-50C>G | NP_001193865.1:n.913-50C>G | |
| NM_001206940.1:c.965-50C>G | NP_001193869.1:n.965-50C>G | |
| NM_001206954.1:c.823-50C>G | NP_001193883.1:n.823-50C>G | |
| NM_001206966.1:c.965-50C>G | NP_001193895.1:n.965-50C>G | |
| NM_172197.2:c.810-50C>G | NP_751947.1:n.810-50C>G | |
| NR_038190.1:n.1248-50C>G | ||
| XM_017010328.2:c.964-50C>G | XP_016865817.1:n.964-50C>G | |
| XR_001743189.2:n.1029-50C>G | ||
| XR_001743190.2:n.981-50C>G | ||
| NM_001136.5:c.965-50C>G MANE Select | NP_001127.1:n.965-50C>G | |
| NM_001206932.2:c.923-50C>G | NP_001193861.1:n.923-50C>G | |
| NM_001206936.2:c.913-50C>G | NP_001193865.1:n.913-50C>G | |
| NM_001206940.2:c.965-50C>G | NP_001193869.1:n.965-50C>G | |
| NM_001206954.2:c.823-50C>G | NP_001193883.1:n.823-50C>G | |
| NM_001206966.2:c.965-50C>G | NP_001193895.1:n.965-50C>G | |
| NM_172197.3:c.810-50C>G | NP_751947.1:n.810-50C>G | |
| NR_038190.2:n.1179-50C>G | ||
| NM_001206929.2:c.1013-50C>G | NP_001193858.1:n.1013-50C>G | |
| NM_001206934.2:c.1013-50C>G | NP_001193863.1:n.1013-50C>G |