Linked Data
dbSNP Id:
rs2267015
gnomAD v2:
22-23558561-A-T
gnomAD v3:
22-23216374-A-T
gnomAD v4:
22-23216374-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23216374A>T , CM000684.2:g.23216374A>T | GRCh38 |
| NC_000022.10:g.23558561A>T , CM000684.1:g.23558561A>T | GRCh37 |
| NC_000022.9:g.21888561A>T | NCBI36 |
| NG_009244.1:g.41010A>T | |
| NG_009244.2:g.41010A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.1279+34135A>T MANE Select | ENSP00000303507.8:n.1279+34135A>T | |
| ENST00000305877.12:c.1279+34135A>T | ENSP00000303507.8:n.1279+34135A>T | |
| ENST00000359540.7:c.1279+34135A>T | ENSP00000352535.3:n.1279+34135A>T | |
| ENST00000398512.9:c.1269+34145A>T | ENSP00000381524.6:n.1269+34145A>T | |
| ENST00000463770.5:n.133+17989A>T | ||
| ENST00000479188.5:n.130-26444A>T | ||
| ENST00000487679.1:n.196+17022A>T | ||
| NM_004327.3:c.1279+34135A>T | NP_004318.3:n.1279+34135A>T | |
| NM_021574.2:c.1279+34135A>T | NP_067585.2:n.1279+34135A>T | |
| NM_004327.4:c.1279+34135A>T MANE Select | NP_004318.3:n.1279+34135A>T | |
| NM_021574.3:c.1279+34135A>T | NP_067585.2:n.1279+34135A>T |