Linked Data
dbSNP Id:
rs774629940
ExAC:
4:128843078 C / G
gnomAD v2:
4-128843078-C-G
gnomAD v4:
4-127921923-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921923C>G , CM000666.2:g.127921923C>G | GRCh38 |
| NC_000004.11:g.128843078C>G , CM000666.1:g.128843078C>G | GRCh37 |
| NC_000004.10:g.129062528C>G | NCBI36 |
| NG_008657.1:g.49062G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1039G>C | ENSP00000296468.3:p.Val347Leu | |
| ENST00000509826.2:c.*272G>C | ENSP00000421176.2:n.*272G>C | |
| ENST00000513559.6:c.757G>C | ENSP00000425000.2:p.Val253Leu | |
| ENST00000515130.6:c.864-152G>C | ENSP00000493056.1:n.864-152G>C | |
| ENST00000641025.1:c.999-152G>C | ENSP00000493346.1:n.999-152G>C | |
| ENST00000641092.1:c.798-152G>C | ENSP00000493392.1:n.798-152G>C | |
| ENST00000641133.1:c.*353G>C | ENSP00000493192.1:n.*353G>C | |
| ENST00000641146.1:n.905G>C | ||
| ENST00000641147.1:c.589G>C | ENSP00000493133.1:p.Val197Leu | |
| ENST00000641178.1:c.904G>C | ENSP00000492989.1:p.Val302Leu | |
| ENST00000641186.1:c.925G>C | ENSP00000493347.1:p.Val309Leu | |
| ENST00000641228.1:c.798-152G>C | ENSP00000493194.1:n.798-152G>C | |
| ENST00000641332.1:c.*164-152G>C | ENSP00000493397.1:n.*164-152G>C | |
| ENST00000641340.1:c.*232-152G>C | ENSP00000493191.1:n.*232-152G>C | |
| ENST00000641388.1:n.350-152G>C | ||
| ENST00000641393.1:c.589G>C | ENSP00000493197.1:p.Val197Leu | |
| ENST00000641397.1:c.684-152G>C | ENSP00000493406.1:n.684-152G>C | |
| ENST00000641413.1:c.28-152G>C | ||
| ENST00000641434.1:c.1039G>C | ENSP00000493279.1:p.Val347Leu | |
| ENST00000641464.1:c.*272G>C | ENSP00000493438.1:n.*272G>C | |
| ENST00000641482.1:c.999-152G>C | ENSP00000493277.1:n.999-152G>C | |
| ENST00000641508.1:c.*272G>C | ENSP00000493209.1:n.*272G>C | |
| ENST00000641509.1:c.724G>C | ENSP00000493459.1:p.Val242Leu | |
| ENST00000641590.1:c.885-152G>C | ENSP00000493132.1:n.885-152G>C | |
| ENST00000641658.1:c.*204G>C | ENSP00000492987.1:n.*204G>C | |
| ENST00000641686.2:c.1039G>C MANE Select | ENSP00000493218.2:p.Val347Leu | |
| ENST00000641690.1:c.838G>C | ENSP00000492966.1:p.Val280Leu | |
| ENST00000641742.1:c.*204G>C | ENSP00000493315.1:n.*204G>C | |
| ENST00000641748.1:c.1039G>C | ENSP00000493330.1:p.Val347Leu | |
| ENST00000641753.1:c.866G>C | ||
| ENST00000641774.1:c.*291G>C | ENSP00000492960.1:n.*291G>C | |
| ENST00000641830.1:c.335-152G>C | ||
| ENST00000641843.1:c.*164-152G>C | ENSP00000493174.1:n.*164-152G>C | |
| ENST00000641869.1:c.304-152G>C | ||
| ENST00000641870.1:c.*164-152G>C | ENSP00000493044.1:n.*164-152G>C | |
| ENST00000641882.1:c.*204G>C | ENSP00000493301.1:n.*204G>C | |
| ENST00000641928.1:c.*232-152G>C | ENSP00000493418.1:n.*232-152G>C | |
| ENST00000641949.1:c.554-1087G>C | ENSP00000492891.1:n.554-1087G>C | |
| ENST00000642012.1:n.903G>C | ||
| ENST00000642034.1:c.885-152G>C | ENSP00000493285.1:n.885-152G>C | |
| ENST00000642042.1:c.1039G>C | ENSP00000493260.1:p.Val347Leu | |
| ENST00000642078.1:c.*164-152G>C | ENSP00000492885.1:n.*164-152G>C | |
| ENST00000296468.7:c.1039G>C | ENSP00000296468.3:p.Val347Leu | |
| ENST00000504126.1:n.67G>C | ||
| ENST00000505284.5:n.894-152G>C | ||
| ENST00000509826.1:c.*272G>C | ENSP00000421176.1:n.*272G>C | |
| ENST00000513559.5:c.904G>C | ENSP00000425000.1:p.Val302Leu | |
| ENST00000515130.5:n.1445-152G>C | ||
| NM_152778.2:c.1039G>C | NP_689991.1:p.Val347Leu | |
| XM_005262893.1:c.1039G>C | XP_005262950.1:p.Val347Leu | |
| XM_005262896.1:c.892G>C | XP_005262953.1:p.Val298Leu | |
| XM_005262897.1:c.838G>C | XP_005262954.1:p.Val280Leu | |
| XM_005262898.2:c.999-152G>C | XP_005262955.1:n.999-152G>C | |
| XM_011531830.1:c.925G>C | XP_011530132.1:p.Val309Leu | |
| XM_011531831.1:c.724G>C | XP_011530133.1:p.Val242Leu | |
| XM_011531832.1:c.885-152G>C | XP_011530134.1:n.885-152G>C | |
| XR_938717.1:n.1116G>C | ||
| NM_001363520.1:c.838G>C | NP_001350449.1:p.Val280Leu | |
| NM_001363521.1:c.724G>C | NP_001350450.1:p.Val242Leu | |
| XM_005262898.3:c.999-152G>C | XP_005262955.1:n.999-152G>C | |
| XM_017007989.1:c.798-152G>C | XP_016863478.1:n.798-152G>C | |
| XM_024453981.1:c.904G>C | XP_024309749.1:p.Val302Leu | |
| XM_024453982.1:c.790G>C | XP_024309750.1:p.Val264Leu | |
| XM_024453983.1:c.589G>C | XP_024309751.1:p.Val197Leu | |
| XR_001741194.1:n.1076-152G>C | ||
| XR_001741195.1:n.962-152G>C | ||
| XR_001741196.1:n.875-152G>C | ||
| XR_001741197.1:n.971G>C | ||
| XR_001741198.2:n.931-152G>C | ||
| XR_001741199.1:n.931-152G>C | ||
| XR_938717.2:n.1116G>C | ||
| NM_001363520.2:c.838G>C | NP_001350449.1:p.Val280Leu | |
| NM_001363521.2:c.724G>C | NP_001350450.1:p.Val242Leu | |
| NM_001371590.1:c.904G>C | NP_001358519.1:p.Val302Leu | |
| NM_001371591.1:c.1039G>C | NP_001358520.1:p.Val347Leu | |
| NM_001371592.1:c.1045G>C | NP_001358521.1:p.Val349Leu | |
| NM_001371593.1:c.925G>C | NP_001358522.1:p.Val309Leu | |
| NM_001371594.1:c.892G>C | NP_001358523.1:p.Val298Leu | |
| NM_001371595.1:c.757G>C | NP_001358524.1:p.Val253Leu | |
| NM_001371596.2:c.1039G>C MANE Select | NP_001358525.1:p.Val347Leu | |
| NM_152778.3:c.1039G>C | NP_689991.1:p.Val347Leu | |
| NM_152778.4:c.1039G>C | NP_689991.1:p.Val347Leu |