Linked Data
dbSNP Id:
rs1176725189
gnomAD v2:
2-136555660-T-A
gnomAD v3:
2-135798090-T-A
gnomAD v4:
2-135798090-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135798090T>A , CM000664.2:g.135798090T>A | GRCh38 |
| NC_000002.11:g.136555660T>A , CM000664.1:g.136555660T>A | GRCh37 |
| NC_000002.10:g.136272130T>A | NCBI36 |
| NG_008104.2:g.62080A>T , LRG_338:g.62080A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4915A>T MANE Select | ENSP00000264162.2:p.Asn1639Tyr | |
| ENST00000264162.6:c.4915A>T | ENSP00000264162.2:p.Asn1639Tyr | |
| ENST00000452974.1:c.3008A>T | ENSP00000391231.1:p.Gln1003Leu | |
| NM_002299.2:c.4915A>T , LRG_338t1:c.4915A>T | NP_002290.2:p.Asn1639Tyr | |
| NM_002299.3:c.4915A>T | NP_002290.2:p.Asn1639Tyr | |
| XM_017004088.2:c.4915A>T | XP_016859577.1:p.Asn1639Tyr | |
| NM_002299.4:c.4915A>T MANE Select | NP_002290.2:p.Asn1639Tyr |