Linked Data
ClinVar Variation Id:
453307
ClinVar RCV Id:
RCV000537988
dbSNP Id:
rs781984979
gnomAD v2:
1-145522734-C-T
gnomAD v3:
1-145912346-G-A
gnomAD v4:
1-145912346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912346G>A , CM000663.2:g.145912346G>A | GRCh38 |
| NC_000001.10:g.145522734C>T , CM000663.1:g.145522734C>T | GRCh37 |
| NC_000001.9:g.144234091C>T | NCBI36 |
| NG_033000.3:g.11579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.595C>T MANE Select | ENSP00000358312.3:p.Arg199Ter | |
| ENST00000369306.7:c.595C>T | ENSP00000358312.3:p.Arg199Ter | |
| ENST00000428634.1:c.61C>T | ENSP00000414018.1:p.Arg21Ter | |
| ENST00000537888.1:c.553C>T | ENSP00000437510.1:p.Arg185Ter | |
| NM_001184795.1:c.553C>T | NP_001171724.1:p.Arg185Ter | |
| NM_003846.2:c.595C>T | NP_003837.1:p.Arg199Ter | |
| NR_073491.1:n.827C>T | ||
| NR_073492.1:n.821C>T | ||
| NR_073493.2:n.1043C>T | ||
| NM_003846.3:c.595C>T MANE Select | NP_003837.1:p.Arg199Ter | |
| NR_073491.2:n.620C>T | ||
| NR_073492.2:n.614C>T |