Linked Data
dbSNP Id:
rs1234760774
gnomAD v2:
5-149636279-A-G
gnomAD v3:
5-150256716-A-G
gnomAD v4:
5-150256716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150256716A>G , CM000667.2:g.150256716A>G | GRCh38 |
| NC_000005.9:g.149636279A>G , CM000667.1:g.149636279A>G | GRCh37 |
| NC_000005.8:g.149616472A>G | NCBI36 |
| NG_047040.1:g.38125T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348628.11:c.338+50T>C | ENSP00000261793.8:n.338+50T>C | |
| ENST00000515758.2:n.502+50T>C | ||
| ENST00000672404.2:n.502+50T>C | ||
| ENST00000682786.1:c.338+50T>C | ENSP00000507199.1:n.338+50T>C | |
| ENST00000683115.1:n.502+50T>C | ||
| ENST00000683332.1:c.278+50T>C | ENSP00000507006.1:n.278+50T>C | |
| ENST00000683506.1:c.338+50T>C | ENSP00000508302.1:n.338+50T>C | |
| ENST00000684093.1:n.496+50T>C | ||
| ENST00000684465.1:n.438+50T>C | ||
| ENST00000398376.8:c.338+50T>C | ENSP00000381412.4:n.338+50T>C | |
| ENST00000510347.2:c.338+50T>C | ENSP00000426607.2:n.338+50T>C | |
| ENST00000671881.1:c.338+50T>C MANE Select | ENSP00000500386.1:n.338+50T>C | |
| ENST00000672089.1:c.338+50T>C | ENSP00000500700.1:n.338+50T>C | |
| ENST00000672396.1:c.338+50T>C | ENSP00000499987.1:n.338+50T>C | |
| ENST00000672404.1:c.183+50T>C | ||
| ENST00000672479.1:c.338+50T>C | ENSP00000500642.1:n.338+50T>C | |
| ENST00000672752.1:c.338+50T>C | ENSP00000499939.1:n.338+50T>C | |
| ENST00000672785.1:c.338+50T>C | ENSP00000500496.1:n.338+50T>C | |
| ENST00000672829.1:c.338+50T>C | ENSP00000500613.1:n.338+50T>C | |
| ENST00000348628.10:c.338+50T>C | ENSP00000261793.8:n.338+50T>C | |
| ENST00000398376.7:c.338+50T>C | ENSP00000381412.3:n.338+50T>C | |
| ENST00000508662.5:n.426+50T>C | ||
| ENST00000515758.1:c.-47+50T>C | ENSP00000427580.1:n.-47+50T>C | |
| NM_015981.3:c.338+50T>C | NP_057065.2:n.338+50T>C | |
| NM_171825.2:c.338+50T>C | NP_741960.1:n.338+50T>C | |
| NM_001363989.1:c.338+50T>C | NP_001350918.1:n.338+50T>C | |
| NM_001363990.1:c.338+50T>C | NP_001350919.1:n.338+50T>C | |
| XM_017009898.2:c.338+50T>C | XP_016865387.1:n.338+50T>C | |
| NM_001369025.2:c.338+50T>C | NP_001355954.1:n.338+50T>C | |
| NM_015981.4:c.338+50T>C MANE Select | NP_057065.2:n.338+50T>C | |
| NM_171825.3:c.338+50T>C | NP_741960.1:n.338+50T>C |