Linked Data
ClinVar Variation Id:
159338
dbSNP Id:
rs201483724
ExAC:
5:176675248 G / T
gnomAD v2:
5-176675248-G-T
gnomAD v3:
5-177248247-G-T
gnomAD v4:
5-177248247-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177248247G>T , CM000667.2:g.177248247G>T | GRCh38 |
| NC_000005.9:g.176675248G>T , CM000667.1:g.176675248G>T | GRCh37 |
| NC_000005.8:g.176607854G>T | NCBI36 |
| NG_009821.1:g.120169G>T , LRG_512:g.120169G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.3691G>T | ENSP00000423372.3:p.Asp1231Tyr | |
| ENST00000347982.9:c.3691G>T | ENSP00000343209.5:p.Asp1231Tyr | |
| ENST00000354179.9:c.3691G>T | ENSP00000346111.5:p.Asp1231Tyr | |
| ENST00000685206.1:n.4147G>T | ||
| ENST00000686993.1:c.3691G>T | ENSP00000510020.1:p.Asp1231Tyr | |
| ENST00000687453.1:c.4255G>T | ENSP00000508426.1:p.Asp1419Tyr | |
| ENST00000688613.1:n.3961G>T | ||
| ENST00000689345.1:c.3691G>T | ENSP00000509711.1:p.Asp1231Tyr | |
| ENST00000689549.1:n.4711G>T | ||
| ENST00000439151.7:c.4564G>T MANE Select | ENSP00000395929.2:p.Asp1522Tyr | |
| ENST00000347982.8:c.3757G>T | ENSP00000343209.4:p.Asp1253Tyr | |
| ENST00000354179.8:c.3757G>T | ENSP00000346111.4:p.Asp1253Tyr | |
| ENST00000439151.6:c.4564G>T | ENSP00000395929.2:p.Asp1522Tyr | |
| NM_022455.4:c.4564G>T , LRG_512t1:c.4564G>T | NP_071900.2:p.Asp1522Tyr | |
| NM_172349.2:c.3757G>T | NP_758859.1:p.Asp1253Tyr | |
| XM_005265959.1:c.4564G>T | XP_005266016.1:p.Asp1522Tyr | |
| XM_005265960.1:c.3757G>T | XP_005266017.1:p.Asp1253Tyr | |
| XM_005265961.1:c.3757G>T | XP_005266018.1:p.Asp1253Tyr | |
| XM_005265962.3:c.58G>T | XP_005266019.1:p.Asp20Tyr | |
| XM_011534610.1:c.4564G>T | XP_011532912.1:p.Asp1522Tyr | |
| XM_011534611.1:c.4564G>T | XP_011532913.1:p.Asp1522Tyr | |
| XM_011534612.1:c.4144G>T | XP_011532914.1:p.Asp1382Tyr | |
| XM_011534613.1:c.3508G>T | XP_011532915.1:p.Asp1170Tyr | |
| XM_011534614.1:c.4564G>T | XP_011532916.1:p.Asp1522Tyr | |
| XM_011534617.1:c.298G>T | XP_011532919.1:p.Asp100Tyr | |
| NM_001365684.1:c.3757G>T | NP_001352613.1:p.Asp1253Tyr | |
| XM_024446150.1:c.4564G>T | XP_024301918.1:p.Asp1522Tyr | |
| XM_024446151.1:c.4564G>T | XP_024301919.1:p.Asp1522Tyr | |
| XM_024446152.1:c.4564G>T | XP_024301920.1:p.Asp1522Tyr | |
| XM_024446153.1:c.4564G>T | XP_024301921.1:p.Asp1522Tyr | |
| XM_024446154.1:c.4144G>T | XP_024301922.1:p.Asp1382Tyr | |
| XM_024446155.1:c.3757G>T | XP_024301923.1:p.Asp1253Tyr | |
| XM_024446156.1:c.3757G>T | XP_024301924.1:p.Asp1253Tyr | |
| XM_024446158.1:c.3757G>T | XP_024301926.1:p.Asp1253Tyr | |
| XM_024446159.1:c.3508G>T | XP_024301927.1:p.Asp1170Tyr | |
| XM_024446160.1:c.4564G>T | XP_024301928.1:p.Asp1522Tyr | |
| XM_024446162.1:c.298G>T | XP_024301930.1:p.Asp100Tyr | |
| XM_024446163.1:c.58G>T | XP_024301931.1:p.Asp20Tyr | |
| NM_022455.5:c.4564G>T MANE Select | NP_071900.2:p.Asp1522Tyr | |
| NM_172349.3:c.3757G>T | NP_758859.1:p.Asp1253Tyr |