Linked Data
dbSNP Id:
rs919768600
gnomAD v2:
2-190439852-T-C
gnomAD v3:
2-189575126-T-C
gnomAD v4:
2-189575126-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575126T>C , CM000664.2:g.189575126T>C | GRCh38 |
| NC_000002.11:g.190439852T>C , CM000664.1:g.190439852T>C | GRCh37 |
| NC_000002.10:g.190148097T>C | NCBI36 |
| NG_009027.1:g.10686A>G , LRG_837:g.10686A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.271+35A>G MANE Select | ENSP00000261024.3:n.271+35A>G | |
| ENST00000261024.6:c.271+35A>G | ENSP00000261024.2:n.271+35A>G | |
| ENST00000427241.5:c.271+35A>G | ENSP00000390005.1:n.271+35A>G | |
| ENST00000479598.5:n.552+35A>G | ||
| NM_014585.5:c.271+35A>G , LRG_837t1:c.271+35A>G | NP_055400.1:n.271+35A>G | |
| XM_005246505.1:c.151+35A>G | XP_005246562.1:n.151+35A>G | |
| XM_005246505.2:c.151+35A>G | XP_005246562.1:n.151+35A>G | |
| XM_017003938.2:c.151+35A>G | XP_016859427.1:n.151+35A>G | |
| NM_014585.6:c.271+35A>G MANE Select | NP_055400.1:n.271+35A>G |