Linked Data
ClinVar Variation Id:
2156794
dbSNP Id:
rs868113642
gnomAD v3:
7-143351655-G-C
gnomAD v4:
7-143351655-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351655G>C , CM000669.2:g.143351655G>C | GRCh38 |
| NC_000007.13:g.143048748G>C , CM000669.1:g.143048748G>C | GRCh37 |
| NC_000007.12:g.142758870G>C | NCBI36 |
| NG_009815.1:g.40530G>C | |
| NG_009815.2:g.40530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2657G>C | ENSP00000498052.2:p.Ser886Thr | |
| ENST00000343257.7:c.2657G>C MANE Select | ENSP00000339867.2:p.Ser886Thr | |
| ENST00000432192.6:c.2481G>C | ||
| ENST00000343257.6:c.2657G>C | ENSP00000339867.2:p.Ser886Thr | |
| NM_000083.2:c.2657G>C | NP_000074.2:p.Ser886Thr | |
| NR_046453.1:n.2597G>C | ||
| XM_011515781.1:c.2681G>C | XP_011514083.1:p.Ser894Thr | |
| XM_011515782.1:c.1403G>C | XP_011514084.1:p.Ser468Thr | |
| XM_011515782.2:c.1403G>C | XP_011514084.1:p.Ser468Thr | |
| XM_017011739.1:c.2231G>C | XP_016867228.1:p.Ser744Thr | |
| XM_017011740.1:c.2207G>C | XP_016867229.1:p.Ser736Thr | |
| NM_000083.3:c.2657G>C MANE Select | NP_000074.3:p.Ser886Thr | |
| NR_046453.2:n.2612G>C |