Linked Data
dbSNP Id:
rs773154553
ExAC:
5:13708303 T / G
gnomAD v2:
5-13708303-T-G
gnomAD v4:
5-13708194-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708194T>G , CM000667.2:g.13708194T>G | GRCh38 |
| NC_000005.9:g.13708303T>G , CM000667.1:g.13708303T>G | GRCh37 |
| NC_000005.8:g.13761303T>G | NCBI36 |
| NG_013081.1:g.241287A>C | |
| NG_013081.2:g.241287A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.600A>C | ||
| ENST00000265104.5:c.13267A>C MANE Select | ENSP00000265104.4:p.Ile4423Leu | |
| ENST00000681290.1:c.13222A>C | ENSP00000505288.1:p.Ile4408Leu | |
| ENST00000265104.4:c.13267A>C | ENSP00000265104.4:p.Ile4423Leu | |
| NM_001369.2:c.13267A>C | NP_001360.1:p.Ile4423Leu | |
| XM_005248262.2:c.13222A>C | XP_005248319.1:p.Ile4408Leu | |
| XM_005248262.3:c.13375A>C | XP_005248319.2:p.Ile4459Leu | |
| XM_017009177.1:c.12955A>C | XP_016864666.1:p.Ile4319Leu | |
| XM_017009178.1:c.12280A>C | XP_016864667.1:p.Ile4094Leu | |
| XM_017009179.2:c.12280A>C | XP_016864668.1:p.Ile4094Leu | |
| XM_017009185.1:c.8464A>C | XP_016864674.1:p.Ile2822Leu | |
| XM_017009186.1:c.8017A>C | XP_016864675.1:p.Ile2673Leu | |
| XM_017009188.1:c.7354A>C | XP_016864677.1:p.Ile2452Leu | |
| XM_024454388.1:c.12280A>C | XP_024310156.1:p.Ile4094Leu | |
| XM_024454389.1:c.11869A>C | XP_024310157.1:p.Ile3957Leu | |
| NM_001369.3:c.13267A>C MANE Select | NP_001360.1:p.Ile4423Leu |