Linked Data
dbSNP Id:
rs2077464
gnomAD v2:
17-38446564-A-G
gnomAD v3:
17-40290312-A-G
gnomAD v4:
17-40290312-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40290312A>G , CM000679.2:g.40290312A>G | GRCh38 |
| NC_000017.10:g.38446564A>G , CM000679.1:g.38446564A>G | GRCh37 |
| NC_000017.9:g.35700090A>G | NCBI36 |
| NG_028240.1:g.7419A>G | |
| NG_028240.2:g.7434A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000209728.9:c.178+714A>G MANE Select | ENSP00000209728.4:n.178+714A>G | |
| ENST00000649662.1:c.178+714A>G | ENSP00000497345.1:n.178+714A>G | |
| ENST00000209728.8:c.178+714A>G | ENSP00000209728.4:n.178+714A>G | |
| ENST00000473555.1:c.178+714A>G | ENSP00000464047.1:n.178+714A>G | |
| ENST00000577249.1:c.178+714A>G | ENSP00000463004.1:n.178+714A>G | |
| ENST00000580824.5:c.178+714A>G | ENSP00000463635.1:n.178+714A>G | |
| NM_001254.3:c.178+714A>G | NP_001245.1:n.178+714A>G | |
| XM_011525541.1:c.178+714A>G | XP_011523843.1:n.178+714A>G | |
| XM_011525542.1:c.178+714A>G | XP_011523844.1:n.178+714A>G | |
| NM_001254.4:c.178+714A>G MANE Select | NP_001245.1:n.178+714A>G | |
| XM_011525541.2:c.178+714A>G | XP_011523843.1:n.178+714A>G |