Linked Data
dbSNP Id:
rs1262262767
gnomAD v2:
9-101304622-A-G
gnomAD v3:
9-98542340-A-G
gnomAD v4:
9-98542340-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542340A>G , CM000671.2:g.98542340A>G | GRCh38 |
| NC_000009.11:g.101304622A>G , CM000671.1:g.101304622A>G | GRCh37 |
| NC_000009.10:g.100344443A>G | NCBI36 |
| NG_016426.1:g.171858T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.460-297T>C MANE Select | ENSP00000259455.2:n.460-297T>C | |
| ENST00000637410.1:n.238-297T>C | ||
| ENST00000637717.1:c.76-297T>C | ENSP00000490789.1:n.76-297T>C | |
| ENST00000638001.1:n.70-297T>C | ||
| ENST00000259455.3:c.460-297T>C | ENSP00000259455.2:n.460-297T>C | |
| ENST00000477471.1:n.247-297T>C | ||
| ENST00000634227.1:n.234-297T>C | ||
| NM_005458.7:c.460-297T>C | NP_005449.5:n.460-297T>C | |
| XM_017015331.2:c.166-297T>C | XP_016870820.1:n.166-297T>C | |
| NM_005458.8:c.460-297T>C MANE Select | NP_005449.5:n.460-297T>C |