Linked Data
dbSNP Id:
rs1177779646
gnomAD v2:
10-101604216-G-A
gnomAD v3:
10-99844459-G-A
gnomAD v4:
10-99844459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844459G>A , CM000672.2:g.99844459G>A | GRCh38 |
| NC_000010.10:g.101604216G>A , CM000672.1:g.101604216G>A | GRCh37 |
| NC_000010.9:g.101594206G>A | NCBI36 |
| NG_011798.1:g.66754G>A | |
| NG_011798.2:g.66862G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3981G>A MANE Select | ENSP00000497274.1:p.Met1327Ile | |
| ENST00000649459.1:n.329G>A | ||
| ENST00000370449.8:c.3981G>A | ENSP00000359478.4:p.Met1327Ile | |
| NM_000392.4:c.3981G>A | NP_000383.1:p.Met1327Ile | |
| XM_006717630.2:c.3285G>A | XP_006717693.1:p.Met1095Ile | |
| XR_945604.1:n.4170G>A | ||
| XR_945605.1:n.4045G>A | ||
| NM_000392.5:c.3981G>A MANE Select | NP_000383.2:p.Met1327Ile | |
| XM_006717630.3:c.3285G>A | XP_006717693.1:p.Met1095Ile | |
| XR_945604.3:n.4224G>A | ||
| XR_945605.3:n.4097G>A |