Linked Data
dbSNP Id:
rs746087937
ExAC:
10:72517839 C / G
gnomAD v2:
10-72517839-C-G
gnomAD v4:
10-70758083-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758083C>G , CM000672.2:g.70758083C>G | GRCh38 |
| NC_000010.10:g.72517839C>G , CM000672.1:g.72517839C>G | GRCh37 |
| NC_000010.9:g.72187845C>G | NCBI36 |
| NG_042147.1:g.90281C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373207.2:c.3059C>G MANE Select | ENSP00000362303.1:p.Ala1020Gly | |
| ENST00000373207.1:c.3059C>G | ENSP00000362303.1:p.Ala1020Gly | |
| ENST00000373208.5:c.3068C>G | ENSP00000362304.1:p.Ala1023Gly | |
| NM_080722.3:c.3059C>G | NP_542453.2:p.Ala1020Gly | |
| NM_139155.2:c.3068C>G | NP_631894.2:p.Ala1023Gly | |
| XM_011539300.1:c.2558C>G | XP_011537602.1:p.Ala853Gly | |
| XM_011539301.1:c.2132C>G | XP_011537603.1:p.Ala711Gly | |
| XM_011539302.1:c.2132C>G | XP_011537604.1:p.Ala711Gly | |
| XM_011539309.1:c.1628C>G | XP_011537611.1:p.Ala543Gly | |
| NM_080722.4:c.3059C>G MANE Select | NP_542453.2:p.Ala1020Gly | |
| NM_139155.3:c.3068C>G | NP_631894.2:p.Ala1023Gly | |
| XM_011539300.2:c.2558C>G | XP_011537602.1:p.Ala853Gly | |
| XM_011539301.2:c.2132C>G | XP_011537603.1:p.Ala711Gly | |
| XM_011539302.2:c.2132C>G | XP_011537604.1:p.Ala711Gly |