Linked Data
ClinVar Variation Id:
255131
ClinVar RCV Id:
RCV000250262
RCV001157069
RCV001157070
RCV001157071
RCV001157072
RCV000933853
RCV001157073
dbSNP Id:
rs745590895
ExAC:
5:149360917 C / T
gnomAD v2:
5-149360917-C-T
gnomAD v3:
5-149981354-C-T
gnomAD v4:
5-149981354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981354C>T , CM000667.2:g.149981354C>T | GRCh38 |
| NC_000005.9:g.149360917C>T , CM000667.1:g.149360917C>T | GRCh37 |
| NC_000005.8:g.149341110C>T | NCBI36 |
| NG_007147.2:g.22472C>T , LRG_684:g.22472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1761C>T MANE Select | ENSP00000286298.4:p.Leu587= | |
| ENST00000286298.4:c.1761C>T | ENSP00000286298.4:p.Leu587= | |
| ENST00000503336.1:c.372+3003C>T | ENSP00000426053.1:n.372+3003C>T | |
| NM_000112.3:c.1761C>T , LRG_684t1:c.1761C>T | NP_000103.2:p.Leu587= | |
| XM_017009191.2:c.1761C>T | XP_016864680.1:p.Leu587= | |
| NM_000112.4:c.1761C>T MANE Select | NP_000103.2:p.Leu587= |