Linked Data
dbSNP Id:
rs780116525
ExAC:
6:31918554 G / C
gnomAD v2:
6-31918554-G-C
gnomAD v4:
6-31950777-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950777G>C , CM000668.2:g.31950777G>C | GRCh38 |
| NC_000006.11:g.31918554G>C , CM000668.1:g.31918554G>C | GRCh37 |
| NC_000006.10:g.32026533G>C | NCBI36 |
| NG_008191.1:g.9834G>C , LRG_136:g.9834G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2175G>C | ||
| ENST00000483004.2:c.1562+5G>C | ENSP00000419887.2:n.1562+5G>C | |
| ENST00000698628.1:c.1625-367G>C | ENSP00000513848.1:n.1625-367G>C | |
| ENST00000698629.1:n.1960G>C | ||
| ENST00000698630.1:n.2494+5G>C | ||
| ENST00000698631.1:n.2495+5G>C | ||
| ENST00000698632.1:n.3294G>C | ||
| ENST00000698633.1:n.3184G>C | ||
| ENST00000698636.1:n.2005G>C | ||
| ENST00000425368.7:c.1778+5G>C MANE Select | ENSP00000416561.2:n.1778+5G>C | |
| ENST00000425368.6:c.1778+5G>C | ENSP00000416561.2:n.1778+5G>C | |
| ENST00000456570.5:c.3284+5G>C | ENSP00000410815.1:n.3284+5G>C | |
| ENST00000467360.1:n.904+5G>C | ||
| ENST00000477310.1:c.2831+5G>C | ENSP00000418996.1:n.2831+5G>C | |
| ENST00000483004.1:c.400+5G>C | ||
| NM_001710.5:c.1778+5G>C , LRG_136t1:c.1778+5G>C | NP_001701.2:n.1778+5G>C | |
| NM_001710.6:c.1778+5G>C MANE Select | NP_001701.2:n.1778+5G>C |