Linked Data
ClinVar Variation Id:
2139464
ClinVar RCV Id:
RCV003052611
dbSNP Id:
rs758573011
ExAC:
5:13770949 G / C
gnomAD v2:
5-13770949-G-C
gnomAD v3:
5-13770840-G-C
gnomAD v4:
5-13770840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770840G>C , CM000667.2:g.13770840G>C | GRCh38 |
| NC_000005.9:g.13770949G>C , CM000667.1:g.13770949G>C | GRCh37 |
| NC_000005.8:g.13823949G>C | NCBI36 |
| NG_013081.1:g.178641C>G | |
| NG_013081.2:g.178641C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9514C>G MANE Select | ENSP00000265104.4:p.His3172Asp | |
| ENST00000681290.1:c.9469C>G | ENSP00000505288.1:p.His3157Asp | |
| ENST00000265104.4:c.9514C>G | ENSP00000265104.4:p.His3172Asp | |
| ENST00000504001.3:n.226C>G | ||
| NM_001369.2:c.9514C>G | NP_001360.1:p.His3172Asp | |
| XM_005248262.2:c.9469C>G | XP_005248319.1:p.His3157Asp | |
| XM_005248262.3:c.9622C>G | XP_005248319.2:p.His3208Asp | |
| XM_017009177.1:c.9622C>G | XP_016864666.1:p.His3208Asp | |
| XM_017009178.1:c.8527C>G | XP_016864667.1:p.His2843Asp | |
| XM_017009179.2:c.8527C>G | XP_016864668.1:p.His2843Asp | |
| XM_017009180.1:c.9622C>G | XP_016864669.1:p.His3208Asp | |
| XM_017009181.1:c.9622C>G | XP_016864670.1:p.His3208Asp | |
| XM_017009182.1:c.9622C>G | XP_016864671.1:p.His3208Asp | |
| XM_017009183.1:c.9622C>G | XP_016864672.1:p.His3208Asp | |
| XM_017009185.1:c.4711C>G | XP_016864674.1:p.His1571Asp | |
| XM_017009186.1:c.4264C>G | XP_016864675.1:p.His1422Asp | |
| XM_017009188.1:c.3601C>G | XP_016864677.1:p.His1201Asp | |
| XM_024454388.1:c.8527C>G | XP_024310156.1:p.His2843Asp | |
| XM_024454389.1:c.8116C>G | XP_024310157.1:p.His2706Asp | |
| NM_001369.3:c.9514C>G MANE Select | NP_001360.1:p.His3172Asp |