Linked Data
ClinVar Variation Id:
525337
ClinVar RCV Id:
RCV000629391
dbSNP Id:
rs374221053
ExAC:
5:13700783 C / G
gnomAD v2:
5-13700783-C-G
gnomAD v3:
5-13700674-C-G
gnomAD v4:
5-13700674-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13700674C>G , CM000667.2:g.13700674C>G | GRCh38 |
| NC_000005.9:g.13700783C>G , CM000667.1:g.13700783C>G | GRCh37 |
| NC_000005.8:g.13753783C>G | NCBI36 |
| NG_013081.1:g.248807G>C | |
| NG_013081.2:g.248807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1022G>C | ||
| ENST00000265104.5:c.13689G>C MANE Select | ENSP00000265104.4:p.Leu4563Phe | |
| ENST00000681290.1:c.13644G>C | ENSP00000505288.1:p.Leu4548Phe | |
| ENST00000265104.4:c.13689G>C | ENSP00000265104.4:p.Leu4563Phe | |
| NM_001369.2:c.13689G>C | NP_001360.1:p.Leu4563Phe | |
| XM_005248262.2:c.13644G>C | XP_005248319.1:p.Leu4548Phe | |
| XM_005248262.3:c.13797G>C | XP_005248319.2:p.Leu4599Phe | |
| XM_017009177.1:c.13377G>C | XP_016864666.1:p.Leu4459Phe | |
| XM_017009178.1:c.12702G>C | XP_016864667.1:p.Leu4234Phe | |
| XM_017009179.2:c.12702G>C | XP_016864668.1:p.Leu4234Phe | |
| XM_017009185.1:c.8886G>C | XP_016864674.1:p.Leu2962Phe | |
| XM_017009186.1:c.8439G>C | XP_016864675.1:p.Leu2813Phe | |
| XM_017009188.1:c.7776G>C | XP_016864677.1:p.Leu2592Phe | |
| XM_024454388.1:c.12702G>C | XP_024310156.1:p.Leu4234Phe | |
| XM_024454389.1:c.12291G>C | XP_024310157.1:p.Leu4097Phe | |
| NM_001369.3:c.13689G>C MANE Select | NP_001360.1:p.Leu4563Phe |