Linked Data
ClinVar Variation Id:
858667
dbSNP Id:
rs766432255
ExAC:
7:143039162 C / T
gnomAD v2:
7-143039162-C-T
gnomAD v3:
7-143342069-C-T
gnomAD v4:
7-143342069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342069C>T , CM000669.2:g.143342069C>T | GRCh38 |
| NC_000007.13:g.143039162C>T , CM000669.1:g.143039162C>T | GRCh37 |
| NC_000007.12:g.142749284C>T | NCBI36 |
| NG_009815.1:g.30944C>T | |
| NG_009815.2:g.30944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1723C>T | ENSP00000498052.2:p.Pro575Ser | |
| ENST00000343257.7:c.1723C>T MANE Select | ENSP00000339867.2:p.Pro575Ser | |
| ENST00000432192.6:c.1547C>T | ||
| ENST00000343257.6:c.1723C>T | ENSP00000339867.2:p.Pro575Ser | |
| NM_000083.2:c.1723C>T | NP_000074.2:p.Pro575Ser | |
| NR_046453.1:n.1663C>T | ||
| XM_011515781.1:c.1747C>T | XP_011514083.1:p.Pro583Ser | |
| XM_011515782.1:c.469C>T | XP_011514084.1:p.Pro157Ser | |
| XM_011515782.2:c.469C>T | XP_011514084.1:p.Pro157Ser | |
| XM_017011739.1:c.1297C>T | XP_016867228.1:p.Pro433Ser | |
| XM_017011740.1:c.1273C>T | XP_016867229.1:p.Pro425Ser | |
| NM_000083.3:c.1723C>T MANE Select | NP_000074.3:p.Pro575Ser | |
| NR_046453.2:n.1678C>T |