Linked Data
dbSNP Id:
rs775307173
ExAC:
5:13701401 T / C
gnomAD v2:
5-13701401-T-C
gnomAD v3:
5-13701292-T-C
gnomAD v4:
5-13701292-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701292T>C , CM000667.2:g.13701292T>C | GRCh38 |
| NC_000005.9:g.13701401T>C , CM000667.1:g.13701401T>C | GRCh37 |
| NC_000005.8:g.13754401T>C | NCBI36 |
| NG_013081.1:g.248189A>G | |
| NG_013081.2:g.248189A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.816A>G | ||
| ENST00000265104.5:c.13483A>G MANE Select | ENSP00000265104.4:p.Met4495Val | |
| ENST00000681290.1:c.13438A>G | ENSP00000505288.1:p.Met4480Val | |
| ENST00000265104.4:c.13483A>G | ENSP00000265104.4:p.Met4495Val | |
| NM_001369.2:c.13483A>G | NP_001360.1:p.Met4495Val | |
| XM_005248262.2:c.13438A>G | XP_005248319.1:p.Met4480Val | |
| XM_005248262.3:c.13591A>G | XP_005248319.2:p.Met4531Val | |
| XM_017009177.1:c.13171A>G | XP_016864666.1:p.Met4391Val | |
| XM_017009178.1:c.12496A>G | XP_016864667.1:p.Met4166Val | |
| XM_017009179.2:c.12496A>G | XP_016864668.1:p.Met4166Val | |
| XM_017009185.1:c.8680A>G | XP_016864674.1:p.Met2894Val | |
| XM_017009186.1:c.8233A>G | XP_016864675.1:p.Met2745Val | |
| XM_017009188.1:c.7570A>G | XP_016864677.1:p.Met2524Val | |
| XM_024454388.1:c.12496A>G | XP_024310156.1:p.Met4166Val | |
| XM_024454389.1:c.12085A>G | XP_024310157.1:p.Met4029Val | |
| NM_001369.3:c.13483A>G MANE Select | NP_001360.1:p.Met4495Val |