Linked Data
dbSNP Id:
rs1833257123
gnomAD v3:
9-134690973-G-A
gnomAD v4:
9-134690973-G-A
MyVariant Identifiers:
chr9:g.137582819G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134690973G>A , CM000671.2:g.134690973G>A | GRCh38 |
| NC_000009.11:g.137582819G>A , CM000671.1:g.137582819G>A | GRCh37 |
| NC_000009.10:g.136722640G>A | NCBI36 |
| NG_008030.1:g.54168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.171G>A | ENSP00000360885.4:p.Lys57= | |
| ENST00000371817.8:c.171G>A MANE Select | ENSP00000360882.3:p.Lys57= | |
| ENST00000371817.7:c.171G>A | ENSP00000360882.3:p.Lys57= | |
| ENST00000464187.1:n.357G>A | ||
| ENST00000618395.4:c.171G>A | ENSP00000481360.1:p.Lys57= | |
| NM_000093.4:c.171G>A | NP_000084.3:p.Lys57= | |
| NM_001278074.1:c.171G>A | NP_001265003.1:p.Lys57= | |
| XR_929712.1:n.573G>A | ||
| XR_929713.1:n.573G>A | ||
| XM_017014266.2:c.171G>A | XP_016869755.1:p.Lys57= | |
| XR_001746183.1:n.569G>A | ||
| NM_000093.5:c.171G>A MANE Select | NP_000084.3:p.Lys57= |