Linked Data
ClinVar Variation Id:
3016738
ClinVar RCV Id:
RCV003878873
dbSNP Id:
rs772953676
ExAC:
5:35867487 C / T
gnomAD v2:
5-35867487-C-T
gnomAD v3:
5-35867385-C-T
gnomAD v4:
5-35867385-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867385C>T , CM000667.2:g.35867385C>T | GRCh38 |
| NC_000005.9:g.35867487C>T , CM000667.1:g.35867487C>T | GRCh37 |
| NC_000005.8:g.35903244C>T | NCBI36 |
| NG_009567.1:g.15497C>T , LRG_74:g.15497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.301C>T MANE Select | ENSP00000306157.3:p.Leu101= | |
| ENST00000303115.7:c.301C>T | ENSP00000306157.3:p.Leu101= | |
| ENST00000506850.5:c.301C>T | ENSP00000421207.1:p.Leu101= | |
| ENST00000511031.1:n.435C>T | ||
| ENST00000511982.1:c.301C>T | ENSP00000425309.1:p.Leu101= | |
| ENST00000514217.5:c.301C>T | ENSP00000427688.1:p.Leu101= | |
| NM_002185.3:c.301C>T | NP_002176.2:p.Leu101= | |
| NR_120485.1:n.404C>T | ||
| XM_005248299.2:c.301C>T | XP_005248356.1:p.Leu101= | |
| XM_005248300.1:c.301C>T | XP_005248357.1:p.Leu101= | |
| XM_011514037.1:c.301C>T | XP_011512339.1:p.Leu101= | |
| NM_002185.4:c.301C>T | NP_002176.2:p.Leu101= | |
| NR_120485.2:n.430C>T | ||
| XM_005248299.4:c.301C>T | XP_005248356.1:p.Leu101= | |
| NM_002185.5:c.301C>T MANE Select | NP_002176.2:p.Leu101= | |
| NR_120485.3:n.388C>T |