Linked Data
ClinVar Variation Id:
2075018
ClinVar RCV Id:
RCV002982370
dbSNP Id:
rs1218980916
gnomAD v2:
9-98241303-G-T
gnomAD v4:
9-95479021-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95479021G>T , CM000671.2:g.95479021G>T | GRCh38 |
| NC_000009.11:g.98241303G>T , CM000671.1:g.98241303G>T | GRCh37 |
| NC_000009.10:g.97281124G>T | NCBI36 |
| NG_007664.1:g.42945C>A , LRG_515:g.42945C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.996C>A | ENSP00000518556.1:p.Ala332= | |
| ENST00000437951.6:c.1191C>A MANE Plus Clinical | ENSP00000389744.2:p.Ala397= | |
| ENST00000690194.1:c.741C>A | ENSP00000509379.1:p.Ala247= | |
| ENST00000692981.1:c.741C>A | ENSP00000510238.1:p.Ala247= | |
| ENST00000331920.11:c.1194C>A MANE Select | ENSP00000332353.6:p.Ala398= | |
| ENST00000331920.10:c.1194C>A | ENSP00000332353.6:p.Ala398= | |
| ENST00000375271.4:c.345C>A | ENSP00000364420.4:p.Ala115= | |
| ENST00000375274.6:c.1191C>A | ENSP00000364423.2:p.Ala397= | |
| ENST00000375290.6:c.831C>A | ENSP00000364439.2:p.Ala277= | |
| ENST00000418258.5:c.741C>A | ENSP00000396135.1:p.Ala247= | |
| ENST00000421141.5:c.741C>A | ENSP00000399981.1:p.Ala247= | |
| ENST00000429896.6:c.741C>A | ENSP00000414823.2:p.Ala247= | |
| ENST00000430669.6:c.996C>A | ENSP00000410287.2:p.Ala332= | |
| ENST00000437951.5:c.996C>A | ENSP00000389744.1:p.Ala332= | |
| NM_000264.3:c.1194C>A , LRG_515t1:c.1194C>A | NP_000255.2:p.Ala398= | |
| NM_001083602.1:c.996C>A , LRG_515t2:c.996C>A | NP_001077071.1:p.Ala332= | |
| NM_001083603.1:c.1191C>A | NP_001077072.1:p.Ala397= | |
| NM_001083604.1:c.741C>A | NP_001077073.1:p.Ala247= | |
| NM_001083605.1:c.741C>A | NP_001077074.1:p.Ala247= | |
| NM_001083606.1:c.741C>A | NP_001077075.1:p.Ala247= | |
| NM_001083607.1:c.741C>A | NP_001077076.1:p.Ala247= | |
| XM_005252102.2:c.741C>A | XP_005252159.1:p.Ala247= | |
| XM_011518868.1:c.1194C>A | XP_011517170.1:p.Ala398= | |
| XM_011518869.1:c.741C>A | XP_011517171.1:p.Ala247= | |
| XM_011518870.1:c.741C>A | XP_011517172.1:p.Ala247= | |
| XM_011518871.1:c.741C>A | XP_011517173.1:p.Ala247= | |
| XM_011518872.1:c.741C>A | XP_011517174.1:p.Ala247= | |
| XM_011518873.1:c.354C>A | XP_011517175.1:p.Ala118= | |
| XM_011518874.1:c.1194C>A | XP_011517176.1:p.Ala398= | |
| NM_000264.4:c.1194C>A | NP_000255.2:p.Ala398= | |
| NM_001083602.2:c.996C>A | NP_001077071.1:p.Ala332= | |
| NM_001083603.2:c.1191C>A | NP_001077072.1:p.Ala397= | |
| NM_001083604.2:c.741C>A | NP_001077073.1:p.Ala247= | |
| NM_001083605.2:c.741C>A | NP_001077074.1:p.Ala247= | |
| NM_001083606.2:c.741C>A | NP_001077075.1:p.Ala247= | |
| NM_001083607.2:c.741C>A | NP_001077076.1:p.Ala247= | |
| NM_001354918.1:c.1194C>A | NP_001341847.1:p.Ala398= | |
| NR_149061.1:n.1382C>A | ||
| NM_000264.5:c.1194C>A MANE Select | NP_000255.2:p.Ala398= | |
| NM_001083606.3:c.741C>A | NP_001077075.1:p.Ala247= | |
| NM_001354918.2:c.1194C>A | NP_001341847.1:p.Ala398= | |
| NR_149061.2:n.2099C>A | ||
| NM_001083602.3:c.996C>A | NP_001077071.1:p.Ala332= | |
| NM_001083603.3:c.1191C>A MANE Plus Clinical | NP_001077072.1:p.Ala397= | |
| NM_001083604.3:c.741C>A | NP_001077073.1:p.Ala247= | |
| NM_001083605.3:c.741C>A | NP_001077074.1:p.Ala247= | |
| NM_001083607.3:c.741C>A | NP_001077076.1:p.Ala247= |