Linked Data
dbSNP Id:
rs760634753
ExAC:
1:161643309 C / T
gnomAD v2:
1-161643309-C-T
gnomAD v3:
1-161673519-C-T
gnomAD v4:
1-161673519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161673519C>T , CM000663.2:g.161673519C>T | GRCh38 |
| NC_000001.10:g.161643309C>T , CM000663.1:g.161643309C>T | GRCh37 |
| NC_000001.9:g.159909933C>T | NCBI36 |
| NG_023318.1:g.15405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358671.10:c.646+290C>T MANE Select | ENSP00000351497.5:n.646+290C>T | |
| ENST00000236937.13:c.646+290C>T | ENSP00000236937.9:n.646+290C>T | |
| ENST00000358671.9:c.646+290C>T | ENSP00000351497.5:n.646+290C>T | |
| ENST00000367961.8:c.625+290C>T | ENSP00000356938.4:n.625+290C>T | |
| ENST00000428605.3:c.646+290C>T | ENSP00000404329.3:n.646+290C>T | |
| ENST00000480308.5:n.696+290C>T | ||
| ENST00000485778.1:n.2014+290C>T | ||
| NM_001002273.2:c.643+290C>T | NP_001002273.1:n.643+290C>T | |
| NM_001002274.2:c.646+290C>T | NP_001002274.1:n.646+290C>T | |
| NM_001002275.2:c.643+290C>T | NP_001002275.1:n.643+290C>T | |
| NM_001190828.1:c.625+290C>T | NP_001177757.1:n.625+290C>T | |
| NM_004001.4:c.646+290C>T | NP_003992.3:n.646+290C>T | |
| XM_011509292.1:c.702C>T | XP_011507594.1:p.Pro234= | |
| XM_017000670.2:c.643+290C>T | XP_016856159.1:n.643+290C>T | |
| XM_024454043.1:c.646+290C>T | XP_024309811.1:n.646+290C>T | |
| XM_024454044.1:c.643+290C>T | XP_024309812.1:n.643+290C>T | |
| XM_024454045.1:c.643+290C>T | XP_024309813.1:n.643+290C>T | |
| XM_024454047.1:c.702C>T | XP_024309815.1:p.Pro234= | |
| NM_001002273.3:c.643+290C>T | NP_001002273.1:n.643+290C>T | |
| NM_001002274.3:c.646+290C>T | NP_001002274.1:n.646+290C>T | |
| NM_001002275.3:c.643+290C>T | NP_001002275.1:n.643+290C>T | |
| NM_001190828.2:c.625+290C>T | NP_001177757.1:n.625+290C>T | |
| NM_001386000.1:c.622+290C>T | NP_001372929.1:n.622+290C>T | |
| NM_001386001.1:c.625+290C>T | NP_001372930.1:n.625+290C>T | |
| NM_001386002.1:c.622+290C>T | NP_001372931.1:n.622+290C>T | |
| NM_001386003.1:c.646+290C>T | NP_001372932.1:n.646+290C>T | |
| NM_001386004.1:c.622+290C>T | NP_001372933.1:n.622+290C>T | |
| NM_001386005.1:c.646+290C>T | NP_001372934.1:n.646+290C>T | |
| NM_001386006.1:c.625+290C>T | NP_001372935.1:n.625+290C>T | |
| NM_004001.5:c.646+290C>T | NP_003992.3:n.646+290C>T | |
| NR_169827.1:n.875+290C>T | ||
| NM_001394477.1:c.646+290C>T MANE Select | NP_001381406.1:n.646+290C>T |